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Patrícia Espinheira de Sá Maciel obtained a PhD in Biomedical Sciences in 1998 at the University of Porto (Institute of Biomedical Sciences Abel Salazar) and a degree in Biochemistry in 1992 at the same University (Faculty of Sciences/Institute of Biomedical Sciences Abel Salazar). Currently, Dr. Maciel is an Associate Professor at the School of Medicine; Director, Principal Investigator and Team Coordinator of Translational Neurogenetics at the Life and Health Sciences Research Institute (ICVS), University of Minho, Portugal, where she has been since 2002. The goal of Dr. Maciel's research is to understand the genetic basis of nervous system function and dysfunction, with a strong focus on human neurological disease, using molecular genetics, genomics, transcriptomics, proteomics, cell biology and behavioral analysis. Her research team studies both neurodegenerative and neurodevelopmental disorders. The disease models her team develops in cells, C. elegans and mouse are, once validated, used to search for therapeutic targets and test the efficacy of therapeutic strategies. Her specific scientific areas of interest are: genetics of neurodegenerative disorders; proteostasis in aging and neurodegeneration; drug discovery; animal models; genetics of neurodevelopmental disorders; genetic basis of susceptibility to common neurological and neuropsychiatric diseases; ubiquitin proteasome system; chromatin remodeling/epigenetics. Dr. Maciel has developed industry-sponsored research in collaboration with pharmaceutical companies such as Takeda Cambridge, Lundbeck, Proteostasis, Casma Therapeutics and Neurolixis. Dr. Maciel belongs to several evaluation committees (both academic and scientific) and she is a reviewer of over 40 international scientific journals. Dr. Maciel has two patent granted, received 6 awards and published 160 scientific articles (including 9 book chapters). These publications were 5701 total times cited (Scopus Preview). Dr. Maciel presents an h-index of 41 at Scopus Preview.
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Identification

Personal identification

Full name
Patrícia Espinheira de Sá Maciel

Citation names

  • Maciel, Patrícia

Author identifiers

Ciência ID
E819-8098-7587
ORCID iD
0000-0002-0920-6350
Researcher Id
B-5989-2009
Scopus Author Id
7004483890

Websites

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Basic Medicine - Neurosciences
  • Natural sciences - Biological Sciences - Biochemistry
  • Medical and Health Sciences - Basic Medicine - Pharmacology and pharmacy
  • Natural sciences - Biological Sciences - Cell Biology
  • Medical and Health Sciences - Medical Biotechnology - Technologies Involving the Manipulation of Cells, Tissues, Organs or the Whole Organism

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Spanish; Castilian Advanced (C1) Advanced (C1) Intermediate (B1) Advanced (C1)
Portuguese Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Italian Beginner (A1) Intermediate (B1) Beginner (A1) Beginner (A1)
Education
Degree Classification
1998
Concluded
 PhD (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Molecular Genetic Studies of Machado-Joseph Disease: contribution for the understanding of clinical variability and genetic instability" (THESIS/DISSERTATION)
 Aprovado por unanimidade
1992
Concluded
 Bioquímica (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
 14
1988
Concluded
 High school diploma (Ensino secundário)
Liceu Rainha Santa Isabel, Portugal
Affiliation

Science

Category
Host institution 		Employer
2002 - Current Principal Investigator (Research) Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2002/02 - 2002/05 Visiting Researcher (Research) City of Hope National Medical Center, United States
1998 - 2002 Researcher (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2001/01/08 - 2001/09/30 Visiting Researcher (Research) University of Cambridge Department of Neurology, United Kingdom
1991 - 1992 Research Trainee (Research) Universidade do Porto Centro de Citologia Experimental, Portugal

Teaching in Higher Education

Category
Host institution 		Employer
2011/10/01 - Current Associate Professor (University Teacher) Universidade do Minho Escola de Medicina, Portugal
2002/09/01 - 2011/09/30 Assistant Professor (University Teacher) Universidade do Minho Escola de Medicina, Portugal
2001 - 2005 Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1997 - 2001 Assistant Professor (University Teacher) Instituto Universitário de Ciências da Saúde, Portugal

Others

Category
Host institution 		Employer
2023/02 - Current Director of Life and Health Sciences Research Institute (ICVS) Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
(...)
2022 - Current Coordinator of Translational Neurogenetics Team Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
(...)
2017/11 - Current Director of the MSc in Health Sciences program Universidade do Minho Escola de Medicina, Portugal
2013 - 2017 Coordinator of the International Post-graduation Course Program Universidade do Minho Escola de Medicina, Portugal
2009 - 2014 Coordinator of Neurodevelopment Research Line of the Neurosciences Research Domain Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2009 - 2012 Coordinator of Molecular Diagnostic Services Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2009 - 2012 Coordinator of the International Post-graduation Course Program Universidade do Minho Escola de Medicina, Portugal
1993 - 1997 PhD student McGill University Centre for Research in Neuroscience, Canada
1993/02/01 - 1993/08/31 PhD student Hôpital universitaire Necker-Enfants malades, France
Projects

Grant

Designation Funders
2022/04/01 - Current Development of over-inhibition of cortical circuits in Down syndrome
NEURON_NDD-162
Principal investigator
Universidade do Minho, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2022 - 2024/02 Dissecting the mechanism of action of TUDCA as a therapeutic for SCA3
NAF Award
Principal investigator
National Ataxia Foundation, United States
 National Ataxia Foundation
Ongoing
2019 - 2023 Determining the Efficacy of NLX-112 in a Mouse Experimental Model of Cerebellar Ataxia
W81XWH-19-1-0638
Researcher
Department of Defense Peer Reviewed Medical Research Program Discovery Award, United States
 US Department of Defense
Concluded
2018 - 2022/07 Nuclear ataxin-3 protein-protein interactions as therapeutic targets in Machado-Joseph disease
PTDC/MED-NEU/29056/2017
Principal investigator
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
 Fundação para a Ciência e a Tecnologia, I.P.
Ongoing
2018 - 2022/07 Modulation of neuronal proteostasis by serotonin: impact on neurodegeneration
PTDC/MED-OUT/31987/2017
Co-Principal Investigator (Co-PI)
Fundação para a Ciência e a Tecnologia
2021/03 - 2022/03 Intermittent fasting as a novel therapeutic strategy for SCAs
1
Researcher
National Ataxia Foundation
Ongoing
2019 - 2021 Genetic screening for identification of novel therapeutic targets in SCA3
Research Seed Money
Co-Principal Investigator (Co-PI)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
 National Ataxia Foundation
Concluded
2019 - 2020 Studying the effect of the molecular tweezer CLR01 in a mouse model of SCA3
N/A
Co-Principal Investigator (Co-PI)
National Ataxia Foundation
2016 - 2020 Role of glial cells in the neurodegenerative process in Machado-Joseph disease.
PTDC/NEU-NMC/3648/2014
Principal investigator
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
 Fundação para a Ciência e a Tecnologia, I.P.
Ongoing
2017 - 2018 Testing the therapeutic potential of mesenchymal stem cells and their secretome in an animal model of spinocerebellar ataxia type 3
N/A
Principal investigator
National Ataxia Foundation, United States
 National Ataxia Foundation
2017 - 2018 The cooperative study on prevention and treatment of neurological disorders by medicinal plants
N/A
Researcher
Fundação para a Ciência e a Tecnologia

Republic of China Ministry of Science and Technology
2016 - 2018 Whole-exome sequencing of discordant and concordant affected sib pairs in spinocerebellar ataxia type 3 (SCA3): a tool to identify novel modifier genes and highlight disrupted molecular pathways
PTDC/DTP-PIC/2638/2014
Researcher
Fundação para a Ciência e a Tecnologia
2012/05 - 2015/04 Proteostasis as a link between longevity pathways and neurodegenerative diseases
Provided by PTCRIS: 124196
PTDC/NEU-BEN/0125/2012
Principal investigator
Fundação para a Ciência e a Tecnologia, I.P.
2013/06 - 2014/05 Determinants of neuron-specific pathogenesis: study in a C. elegans model of Machado-Joseph disease
Provided by PTCRIS: 124862
Researcher
Fundação para a Ciência e a Tecnologia, I.P.
2012 - 2013 Pharmacologic therapy for Machado-Joseph disease: from a C. elegans drug screen to a mouse model validation
N/A
Principal investigator
Ataxia UK
2011/01/01 - 2013 Regulation by phosphorylation of ataxin-3, the mutated protein in Machado Joseph Disease
PTDC/ SAU-NMC/110602/2009
Researcher
Fundação para a Ciência e a Tecnologia, I.P.
2011 - 2013 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease
PTDC/SAU-GMG/112617/2009
Principal investigator
Fundação para a Ciência e a Tecnologia
2011 - 2012 RTTSEQ: Whole exome sequencing in patients with Rett syndrome-like disorders
FP7/2007-2013
Principal investigator
European Commission Seventh Framework Programme for Research and Technological Development
Concluded
2010 - 2012 Ataxin-3: gain and loss of function in Machado-Joseph disease
PTDC/SAU-GMG/101572/2008
Principal investigator
Fundação para a Ciência e a Tecnologia, I.P.
Concluded
2010 - 2011 Identification of compounds that modulate ataxin-3 aggregation and neurological dysfunction in a C. elegans model of Machado-Joseph disease
N/A
Principal investigator
National Ataxia Foundation
2009/01/01 - 2011 Transcriptional variation of the ATXN3 gene as modulator of the clinical heterogeneity in Machado-Joseph disease (MJD).
PIC/IC/83074/2007
Researcher
Fundação para a Ciência e a Tecnologia, I.P.
2009 - 2011 Idiopathic mental retardation: evaluation of a CGH microarray strategy for genetic diagnosis.
PIC/IC/83026/2007
Principal investigator
Fundação para a Ciência e a Tecnologia, I.P.
2009 - 2011 Clinical and Genetic study of X-linked mental retardation (XLMR) in Portugal: validation of a gene panel for diagnosis.
PIC/IC/83013/2007
Principal investigator
Fundação para a Ciência e a Tecnologia, I.P.
Concluded
2008 - 2010 Therapeutic strategies for Machado-Joseph disease: study in a mouse model.
PTDC /SAU-GMG/64076/2006
Principal investigator
Fundação para a Ciência e a Tecnologia, I.P.
2007 - 2009 Role of neuroinflammation in the pathogenesis and progression of Machado-Joseph disease: study of a mouse model
N/A
Principal investigator
Ataxia MJD Research Project, United States
 Ataxia MJD Research Project
2005/06/01 - 2008/12/31 Molecular determinants of ataxin-3 aggregation and toxicity in Machado-Joseph's disease
POCI/SAU-MMO/60156/2004
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2008 - 2008 High prevalence pathologies in the Azores: genetic and biochemical markers
M2.1.2/F/026/2008
Researcher
2005 - 2008 Study of the involvement of the molecular chaperones and the ubiquitin-proteasome system in Machado-Joseph disease
POCTI/SAU-MMO/60412/2004
Principal investigator
Fundação para a Ciência e a Tecnologia
2005 - 2008 Molecular determinants of ataxin-3 aggregation and toxicity in Machado-Joseph disease
POCTI/SAU-MMO/60156/2004
Researcher
Fundação para a Ciência e a Tecnologia
2003/03/01 - 2006 Crystal structure determination of normal and expanded ataxin 3: Analysis of the structural determinants implicated in Machado-Joseph disease
POCTI/SAU-MGI/47550/2002
Researcher
Fundação para a Ciência e a Tecnologia, I.P.
2003 - 2006 Clinical, Epidemiologic and Genetic study of Rett syndrome in Portugal
POCTI/SAU-MGI/41416/2001
Principal investigator
Fundação para a Ciência e a Tecnologia
2001 - 2005 Animal models for the study of Machado-Joseph disease
POCTI/SAU-MGI/34759/99
Principal investigator
Fundação para a Ciência e a Tecnologia
2001 - 2004 Genetic Study of Migraine
POCTI/SAU-MGI/34390/99
Researcher
Fundação para a Ciência e a Tecnologia, I.P.
2001 - 2003 Modifiers of Selective Tissue Iron Overload and Damage
POCTI/SAU-MGI/33485/99
Researcher
Fundação para a Ciência e a Tecnologia, I.P.
2000 - 2002 Genetic Analyses of Multiple Sclerosis in Europeans (GAMES).
N/A
Researcher
Wellcome Trust
1999 - 2002 Molecular Genetic Analysis of the Machado-Joseph disease gene and protein product
Projecto 582-99
Principal investigator
Fundação Luso-Americana
1999 - 2001 Genetics of dominant ataxias and hereditary spastic paraplegias
PRAXIS/P/ SAU/13226/1998
Researcher
Fundação para a Ciência e a Tecnologia
1999 - 2001 Study of the transmission of the Machado-Joseph disease dynamic mutation by molecular analysis of germline in carriers
N/A
Researcher
Ministério da Saúde
1999 - 2001 Genetic Study of Migraine
N/A
Researcher
Ministério da Saúde

Sociedade Portuguesa de Cefaleias
1999 - 2001 Retrospective study of hereditary risk factors in children with stroke
N/A
Researcher
Ministério da Saúde
2000 - 2000 Machado-Joseph disease: a model for study in C. elegans
N/A
Principal investigator
National Ataxia Foundation
1997 - 1999 Genetics of Machado-Joseph Disease and other inherited ataxias
PRAXIS/SAU/ P/SAU/84/96
Researcher
Fundação para a Ciência e a Tecnologia
1996 - 1998 Programme for Predictive Testing and Genetic Counseling of Machado-Joseph Disease
PECS/P/SAU/50/95
Researcher
Fundação para a Ciência e a Tecnologia
1993 - 1995 Search for a genetic marker and gene mapping of Machado-Joseph disease
STRIDE/STRDA/C/SAU/300/92
Researcher
Fundação para a Ciência e a Tecnologia

Contract

Designation Funders
2021/01/01 - 2025/12/31 ICVS/3B's - Laboratório Associado, Instituto de Ciências da Vida e da Saúde / Grupo de Investigação em Biomateriais, Biodegradaveis e Biomiméticos
LA/P/0050/2020
Universidade do Minho, Portugal

Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2019/01/01 - 2019/12/31 ICVS/3B's - Associate Laboratory, Life and Health Sciences Research Institute / Biomaterials, Biodegradables and Biomimetics Research Group
UID/Multi/50026/2019
Universidade do Minho, Portugal

Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2011/01/01 - 2012/12/31 Strategic Project - LA 26 - 2011-2012
PEst-C/SAU/LA0026/2011
Universidade do Minho, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2020 - 2023 New Chromene Derivatives for Cancer Treatment
NORTE-01-0145-FEDER-046826
Researcher
Laboratório Associado ICVS 3B's, Portugal
 Agência Nacional de Inovação SA
Ongoing
2017 - 2020 Citalopram or escitalopram, pharmaceutically acceptable salts thereof for use in the treatment of neurodegenerative diseases
POCI-01-0145-FEDER-036327
Principal investigator
Agência Nacional de Inovação SA
Outputs

Publications

Book chapter
  1. Duarte-Silva, S.; Maciel, P.. "Pharmacological Therapies for Machado-Joseph Disease". In Advances in Experimental Medicine and Biology, 369-394. Springer International Publishing, 2018.
    10.1007/978-3-319-71779-1_19
  2. Rego, AC.; Teixeira-Castro, A.; Maciel, P.. "Doenças de expansão de poliglutaminas - o paradigma das doenças de Huntington e de Machado-Joseph". In Neurociências. LIDEL - Edições Técnicas, 2017.
  3. Duarte-Silva, S.; Jalles, A.; Maciel, P.. "Therapeutic strategies for polyQ diseases: from cellular and animal models to the clinic". In Neuropathology: New Research. Nova Science Publishers, 2012.
  4. Bessa, C.; Lopes, F.; Maciel, P.. "Molecular Genetics of Intellectual Disability". In Latest Findings in Intellectual and Developmental Disabilities Research. InTech, 2012.
    10.5772/31269
  5. Teixeira-Castro, A.; Dias, N.; Rodrigues, P.; Oliveira, JF.; Rodrigues, NF.; Maciel, P.; Vilaça, JL.. "An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans". In Advances in Intelligent and Soft Computing Series. Springer-Verlag, 2011.
    10.1007/978-3-642-19914-1_5
  6. Sampaio-Marques, B.; Almeida, B.; Maciel, P.; Ludovico, P.. "Protein misfolding and cell death". In Protein Misfolding in Biology and Disease. Transworld Research Network, 2008.
  7. Bettencourt, C.; Silva-Fernandes, A.; Montiel, R.; Maciel, P.; Lima, M.. "Triplet repeats: features, dynamics and evolutionary mechanisms". In Recent Advances in Molecular Biology and Evolution: Applications to Biological Anthropology. Research Signpost, 2007.
  8. Lima, M.; Santos, C.; Bettencourt, C.; Maciel, P.. "Genetic testing for late-onset disorders: the experience of Machado-Joseph disease in the Azores Islands". In Trends in Birth Defects Research, 83-94. Nova Science Publishers, 2006.
  9. Maciel, P.; Temudo, T.. "Rett syndrome: Clinical features and advances in Genetics (Spanish)". In Autismo Infantil. Viguera Editores, 2005.
Conference abstract
  1. Ferreira-Fernandes, A. R.; Meireles-Costa, L.; Teixeira-Castro, A.; Almeida, B.; Maciel, P.. "Development of a cellular ataxin-3 protein-protein interaction (PPI) assay for the screening of PPI modifiers". Paper presented in IV International Meeting of the Portuguese Society of Genetics (IMPSG), Braga, 2023.
    Published
  2. Monteiro-Fernandes, D.; Guerreiro, S. R.; Domingues, A. V.; Soares-Cunha, C.; Coimbra, B.; Rodrigues, A. J.; Newman-Tancredi, A.; et al. "Therapeutical ­potential ­of ­5HT1AR ­agonism­ on ­behavioral ­and­ neuropathology ­in ­a ­clinically ­relevant­ mouse­ model ­of ­Rett ­syndrome". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) Meeting, Porto, 2023.
    Published
  3. Cunha-Garcia, D.; Monteiro-Fernandes, D.; Duarte-Silva, S.; Maciel, Patrícia. "Voluntary exercise improves balance and fine motor coordination of a transgenic mouse model of Machado-Joseph disease". Paper presented in Portuguese Society of Movement Disorders (SPDMov) Meeting 2023, Mealhada (Luso), 2023.
    Published
  4. Da Silva, J. D.; Duarte-Silva, S.; Costa, M. D.; Neves-Carvalho, A.; Raposo, M.; Soares-Cunha, C.; Correia, J. S.; et al. "The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, Dallas, Texas, 2022.
    Published
  5. Vilasboas-Campos, D.; Fernandes, J.; Vieira, C.; Teixeira-Castro, A.; Maciel, Patrícia; Costa, M. D.. "Novel genetic modifiers of SCA3/MJD: an EMS screening in a C. elegans model of the disease". Paper presented in International Congress for Ataxia Research (ICAR 2022), Dallas, Texas, 2022.
    Published
  6. Duarte-Silva, S.; Vilasboas-Campos, D.; Monteiro-Fernandes, D.; Pereira-Sousa, J.; Neves-Carvalho, A.; Silva, A.; Carvalho, A. L.; et al. "CLR01, a molecular tweezer, attenuates motor dysfunction and pathology in SCA3 in vivo models". Paper presented in International Congress for Ataxia Research (ICAR) 2022, Dallas, Texas, 2022.
    Published
  7. Duarte-Silva, S.; Santos, A.; Monteiro-Fernandes, D.; Rigamonti, M.; Maciel, Patrícia; Castelhano-Carlos, M. J.. "Digital Ventilated Cages (DVC) as a tool for the study of Machado-Joseph Disease: Influence of physical exercise on established motor dysfunction in transgenic MJD mice". Paper presented in 15th FELASA Congress, Marseille, 2022.
    Published
  8. Jalles, A.; Teixeira-Castro, A.; Miranda, A.; Bessa, C.; Morimoto, R. I.; Maciel, Patrícia. "A whole organism screen identifies serotonergic signaling as modulator of Machado-Joseph disease pathogenesis". Paper presented in 17th Meeting of the Portuguese Society of Human Genetics, Coimbra, 2013.
    Published
  9. Neves-Carvalho, A.; Freitas, A.; Duarte-Silva, S.; Silva-Fernandes, A.; Martins, A.; Logarinho, E.; Relvas, J.; Heutink, P.; Maciel, Patrícia. "Loss of function of the deubiquitylase Ataxin-3 affects differentiation, proliferation and cytoskeletal organization in neuronal cells through the modulation of alfa-5 integrin subunit levels". Paper presented in 5th Annual Ubiquitin Drug Discovery & Diagnostics, Philadelphia, 2013.
    Published
  10. Duarte-Silva, S.; Silva-Fernandes, A.; Esteves, S.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, Patrícia. "17-DMAG and Valproic acid improve the phenotype of a new transgenic mouse model of Machado-Joseph disease". Paper presented in Ataxia Research Conference, London, 2012.
    Published
  11. Lopes, F.; Barbosa, M.; Temudo, T.; Sá, J.; Dias, A. I.; Oliveira, G.; Cabral, P.; et al. "Whole exome sequencing in patients with a Rett-like phenotype". Paper presented in 16th Meeting of the Portuguese Society of Human Genetics, Porto, 2012.
    Published
  12. Jalles, A.; Teixeira-Castro, A.; Martins-Araújo, M.; Miranda, A.; Bessa, C.; Maciel, Patrícia. "Identification of candidate therapeutic compounds for Machado-Joseph disease in C. elegans". Paper presented in 16th Meeting of the Portuguese Society of Human Genetics, Porto, 2012.
    Published
  13. Lopes, F.; Bessa, C.; Lopes, S.; Soares, G.; Silva, J.; Barbosa, M.; Temudo, T.; et al. "Bioinformatic approaches for the identification of key cognition genes in large genomic imbalances detected by aCGH". Paper presented in 15th Meeting of the Portuguese Society of Human Genetics, Lisbon, 2011.
    Published
  14. Silva, J.; Lopes, F.; Soares, G.; Barbosa, M.; Rocha, M.; Barros, G.; Gomes, C.; et al. "aCGH analysis of Portuguese patients with idiopathic mental retardation". Paper presented in 14th Meeting of the Portuguese Society of Human Genetics, Coimbra, 2010.
    Published
  15. Barbosa, M.; Sá, M. J.; Dias, C.; Silva, J.; Fortuna, A.M.; Lopes, F.; Maciel, Patrícia; et al. "FOXL2 mutations: from 1 base pair to 10 Megabase". Paper presented in 14th Meeting of the Portuguese Society of Human Genetics, Coimbra, 2010.
    Published
  16. Maciel, Patrícia; Teixeira-Castro, A.; Jalles, A.; Morimoto, R. I.. "Genetic and pharmacologic modulation of the HSF-1 pathway rescues neuronal proteotoxicity in a C. elegans model of Machado-Joseph disease". Paper presented in 14th Meeting of the Portuguese Society of Human Genetics, Coimbra, 2010.
    Published
  17. Teixeira-Castro, A.; Jalles, A.; Morimoto, R. I.; Maciel, Patrícia. "Modeling Machado-Joseph disease in Caenorhabditis elegans". Paper presented in XXXV Jornadas Portuguesas de Genética, Braga, 2010.
    Published
  18. Bettencourt, C.; Santos, C.; Montiel, R.; Santos, L. R.; Costa, M. C.; Simões, N.; Kay, T.; et al. "Novel Splicing Variants of Machado-Joseph Disease Gene (ATXN3)". Paper presented in V International Workshop on Machado-Joseph Disease, Azores, 2009.
    Published
  19. Carvalho, A.; Rodrigues, A. J.; Ferro, A.; Rokka, A.; Corthals, G. L.; Logarinho, E.; Maciel, Patrícia. "Ataxin-3, UBXN-5 and CDC-48: a new trimolecular complex in C. elegans". Paper presented in V International Workshop on Machado-Joseph Disease, Azores, 2009.
    Published
  20. Rodrigues, A. J.; Carvalho, A.; Teixeira-Castro, A.; Rokka, A.; Corthals, G. L.; Logarinho, E.; Maciel, Patrícia. "Increased thermotolerace and hormesis in the absence of ataxin-3 in C. elegans". Paper presented in V International Workshop on Machado-Joseph Disease, Furnas, Azores, 2009.
    Published
  21. Teixeira-Castro, A.; Morimoto, R. I.; Maciel, Patrícia. "Ataxin-3 protein context and cell-specific factors modulate polyQ-mediated neuronal aggregation in a C. elegans model of Machado-Joseph disease". Paper presented in V International Workshop on Machado-Joseph Disease, Furnas, Azores, 2009.
    Published
  22. Teixeira-Castro, A.; Morimoto, R. I.; Maciel, Patrícia. "Ataxin-3 protein context and cell-specific factors modulate polyQ-mediated neuronal aggregation in a C. elegans model of Machado-Joseph disease". Paper presented in 11th Meeting of the Portuguese Society of Human Genetics, Braga, 2009.
    Published
  23. Santos, M.; Summavielle, T.; Teixeira, S.; Teixeira-Castro, A.; Silva-Fernandes, A.; Sousa, N.; Maciel, Patrícia. "Age- and region-specific disturbances of monoaminergic systems in the brain of MECP2-null mice". Paper presented in 6th World Rett Syndrome Congress, Paris, 2008.
    Published
  24. Bettencourt, B.; Fialho, RN.; Montiel, R.; Santos, C.; Maciel, Patrícia; Bruges-Armas, J.; Lima, M.. "Segregation ratio distortion and population distribution of wild-type MJD alleles: a study in Azorean families". Paper presented in X Portugaliae Genetica, Porto, 2007.
    Published
  25. Silva-Fernandes, A.; Teixeira-Castro, A.; Costa, M. C.; Duarte-Silva, S.; Saraiva, M. J.; Maciel, Patrícia. "Genetic interaction between Machado-Joseph disease mutant gene and age-related cellular quality control mechanisms". Paper presented in Link-Age Meeting, Porto, 2007.
    Published
  26. Teixeira-Castro, A.; Morimoto, R. I.; Maciel, Patrícia. "Insights into ageing-modulation of in vivo dynamics of ataxin-3 aggregation in C. elegans neurons". Paper presented in Link-Age Meeting, Porto, 2007.
    Published
  27. Costa, M. C., ; Maciel, Patrícia. "Subcellular localization of mouse ataxin-3, the protein responsible for Machado-Joseph disease". Paper presented in Meeting of the Portuguese Society of Microscopy, Braga, 2006.
    Published
  28. Maciel, Patrícia; Santos, M.; Barbot, C.; Medeira, A.; Cabral, H.; Cabral, P.; Carrilho, I.; et al. "Rett syndrome-like male patients: study of the MECP2, NLGN3 and NLGN4 genes". Paper presented in 2nd Iberian Neuropediatrics Meeting, Estoril, 2005.
    Published
  29. Santos, M.; Silva-Fernandes, A.; Oliveira, P.; Sousa, N.; Maciel, Patrícia. "Study of postnatal neurodevelopmental hallmarks in a mouse model of Rett syndrome". Paper presented in 2nd Iberian Neuropediatrics Meeting, Estoril, 2005.
    Published
  30. Santos, M.; Silva-Fernandes, A.; Oliveira, P.; Sousa, N.; Maciel, Patrícia. "Delayed achievement of developmental milestones in a mouse model of Rett syndrome". Paper presented in Society for Neuroscience (SfN), Washington, DC., 2005.
    Published
  31. Teixeira-Castro, A.; Sousa, J. C.; Costa, M. J.; Maciel, Patrícia. "Learning the biochemical basis of axonal migration: use of Caenorhabditis elegans as a model". Paper presented in Annual Meeting of the Portuguese Society of Biochemistry, Vilamoura, 2004.
    Published
  32. Pinto-Basto, J.; Santos, M.; Rio, M. E.; Valença, A.; Sequeiros, J.; Maciel, Patrícia. "Association study of multiple sclerosis in Portuguese patients: whole genome screen using 6,000 microsatellite markers". Paper presented in 52nd Annual Meeting of American Society of Human Genetics, Baltimore, Maryland, 2002.
    Published
  33. Ferro, A.; Pinto-Basto, J.; Barreirinho, S.; Santos, M.; Barbot, C.; Costa, E.; Sousa, A.; Barbot, J.; Maciel, Patrícia. "Retrospective study of genetic risk factors in 22 cases of paediatric stroke". Paper presented in 10th European Neurological Society Meeting, Jerusalem, 2002.
    Published
Conference paper
  1. Correia, Joana Sofia; Monteiro-Fernandes, Daniela; Guerreiro, Sara; Ferreira-Lomba, Bruna; Cunha-Garcia, Daniela ; Gomes, Patrícia ; Duarte-Silva, Sara; Maciel, Patrícia. "Assessing the HPA-axis mediated stress responses in a mouse model of SCA3". Paper presented in 11th IBRO World Congress of Neuroscience, Granada, 2023.
    Published • 10.1016/j.ibneur.2023.08.1082
  2. Vieira, C.; Guerreiro, S.; Duarte-Silva, S.; Monteiro-Fernandes, D.; Ferreira-Lomba, B.; Maciel, Patrícia; Teixeira-Castro, A.. "Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) (ISN-ESN) 2023 Meeting | Advanced School, Porto, 2023.
    Published
  3. Oliveira, S.; Duarte-Silva, S.; Riess, O.; Hübener-Schmid, J.; Maciel, Patrícia; Teixeira-Castro, A.. "Serotonergic signaling modulation as a therapeutic approach for spinocerebellar ataxia type 3: unveiling the molecular pathways". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) (ISN-ESN) 2023 Meeting, Porto, 2023.
    Published
  4. Vilasboas-Campos, D.; Lopes, J.; Ferreira-Lomba, B.; Da Silva, J. D.; Costa, M. D.; Maciel, Patrícia; Teixeira-Castro, A.. "FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) (ISN-ESN) 2023 Meeting, Porto, 2023.
    Published
  5. Vilasboas-Campos, D.; Lopes, J.; Ferreira-Lomba, B.; Da Silva, J. D.; Costa, M. D.; Maciel, P.; Teixeira-Castro, A.. "Chemical screening for novel therapeutic target identification in Machado-Joseph disease". Paper presented in 35th European College of Neuropsychopharmacology (ECNP) Congress, Vienna, 2022.
    Published • 10.1016/j.nsa.2022.100840
  6. Ferreira-Lomba, B.*; Guerreiro, S.*; Cunha-Garcia, D.; Pereira-Sousa, J.; Duarte-Silva, S.; Teixeira-Castro, A.; Kleven, M. S.; et al. "Befiradol treatment ameliorated the motor dysfunction of Spinocerebellar Ataxia Type 3 mouse model". Paper presented in 35th European College of Neuropsychopharmacology (ECNP) Congress, Vienna, 2022.
    Published • 10.1016/j.nsa.2022.100835
  7. Monteiro-Fernandes, D.; Guerreiro, S.; Gomes, P.; Domingues, A. V.; Soares-Cunha, C.; Coimbra, B.; Santos, A.; et al. "Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation". Paper presented in International Society for Neurochemistry (ISN) and the Asian-Pacific Society for Neurochemistry (APSN) (ISN-APSN) 2022 Meeting, Honolulu, Hawaii, 2022.
    Published
  8. Vilasboas-Campos, D.; Duarte-Silva, S.; Monteiro-Fernandes, D.; Pereira-Sousa, J.; Neves-Carvalho, A.; Bitan, G.; Macedo-Ribeiro, S.; et al. "The molecular tweezer CLR01 reduces motor impairments and neuropathology in spinocerebellar ataxia type 3 in vivo models". Paper presented in International Society for Neurochemistry (ISN) and the Asian-Pacific Society for Neurochemistry (APSN) (ISN-APSN) 2022 Meeting, Honolulu, Hawaii, 2022.
    Published
  9. Guerreiro, S.*; Ferreira-Lomba, B.*; Cunha-Garcia, D.; Duarte-Silva, S.; Teixeira-Castro, A.; Vilasboas-Campos, D.; Vidinha-Mira, A.; et al. "Preclinical study of a 5-HT1A specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease". Paper presented in International Society for Neurochemistry (ISN) and the Asian-Pacific Society for Neurochemistry (APSN) (ISN-APSN) 2022 Meeting, Honolulu, Hawaii, 2022.
    Published
  10. Correia, J. S.; Monteiro-Fernandes, D.; Guerreiro, S.; Ferreira-Lomba, B.; Cunha-Garcia, D.; Gomes, P.; Duarte-Silva, S.; Maciel, Patrícia. "The study of depression and cognitive comorbidities in a mouse model of spinocerebellar ataxia type 3". Paper presented in International Society of Neurochemistry (ISN) and Asian Pacific Society of Neurochemistry (APSN) 2022 Meeting, Honolulu, Hawaii, 2022.
    Published
  11. Neves-Carvalho, A; Duarte-Silva, S; Silva, J; Almeida, Bruno; Heeltveld, S; Sotiropoulos, I; Wan Li, K; Heutink, P; Maciel, Patrícia. "Neuronal missplicing and imbalance in tau isoform ratio through atxn3 mediated deubiquitylation: implications for disease". Paper presented in AAIC 2019, 2019.
Conference poster
  1. Vilasboas-Campos, Daniela; Lopes, Joana; Ferreira-Lomba, Bruna; Da Silva, Jorge D.; Costa, Marta Daniela; Rodrigues, A.I.; Sousa, A.; et al. "Unveiling Promising Compounds for Boosting Proteostasis: A Rapid Whole-Animal Organism Phenotypic Assay". Paper presented in EMBO Workshop: "Proteostasis: From translation to degradation", 2023.
  2. Meireles-Costa, L*; Duarte-Silva, S.*; Neves-Carvalho, A.*; Silva, J. M.; Monteiro-Fernandes, D.; Correia, J. S.; Rodrigues, B.; et al. "ATXN3-mediated deubiquitylation of splicing factors regulates neuronal mRNA splicing and tau isoform ratio ATXN3 regulates SRSF7 levels and Tau ratio". Paper presented in EMBO Workshop: "Proteostasis: From translation to degradation", 2023.
  3. Oliveira, S.; Pereira-Sousa, J.; Vilasboas-Campos, D.; Ferreira-Lomba, B.; Kirstein, J.; Li, J.; Morimoto, R. I.; et al. "Serotonin as an endogenous regulator of proteostasis: towards mechanism". Paper presented in EMBO Workshop: "Proteostasis: From translation to degradation", 2023.
  4. Sárkány, Zsuzsa; Figueiredo, Francisco; Silva, Alexandra; Vilasboas-Campos, Daniela; Maciel, Patrícia; Teixeira-Castro, Andreia; MARTINS, PEDRO MIGUEL; Macedo-Ribeiro, Sandra. "Repurposing dopaminergic drugs to prevent Ataxin 3 aggregation". Paper presented in III PhasAGE International Conference:Multiscale understanding of protein aggregation and biomolecular condensates in aging and disease, 2023.
  5. Costa, Marta; Cerqueira, Mónica; Silva, Ana; Pontes, Olívia; Oliveira-Pinto, Sofia; Carvalho, Luísa; Lopes, Diogo; et al. "Chromene-based molecules: privileged scaffold for oncology drug development". Paper presented in III ASPIC-ASEICA International Meeting Abstract Submission, 2023.
  6. Carvalho, Luísa; Pedroso de Lima, Fábio; Cerqueira, Mónica; Silva, Ana; Pontes, Olívia; Oliveira-Pinto, Sofia; Guerreira, Sara; et al. Corresponding author: Costa, Marta. "Biological characterization of novel chromeno[2,3-d]pyrimidinones as therapeutic approach for the treatment of triple-negative Breast Cancer". Paper presented in III ASPIC-ASEICA International Meeting, 2023.
  7. Cunha-Garcia, Daniela ; Duarte-Silva, Sara; Maciel, Patrícia. "The skeletal muscle in SCA3: contribution to disease, potential for biomarker development and therapeutic target". Paper presented in Postgraduate Students Retreat MSc or PhD, grab your future, 2023.
  8. Diogo Lopes; Oliveira-Pinto, Sofia; Pontes, Olívia; Bele´m Sampaio-Marques; Marta D. Costa; Luísa Carvalho; Céline Gonçalves; et al. "Synthesis of chromene[2,3-b]pyridines and characterization of their anticancer potential for the treatment of breast cancer". Paper presented in 5th National Meeting for Young Researchers in Oncology, 2023.
  9. Carvalho, Luísa; Pedroso de Lima, Fábio; Cerqueira, Mónica; Silva, Ana; Pontes, Olívia; Oliveira-Pinto, Sofia; Guerreiro, Sara; et al. Corresponding author: Costa, Marta. "In vitro and in vivo evaluation of novel chromeno[2,3-d]pyrimidinones as therapeutic agents for triple negative breast cancer". Paper presented in 5th National Meeting for Young Researchers in Oncology, 2023.
  10. Carvalho, Luísa; Pedroso de Lima, Fábio; Cerqueira, Mónica; Silva. Ana; Pontes, Olívia; Oliveira-Pinto, Sofia; Guerreiro, Sara; et al. Corresponding author: Costa, Marta. "Avaliação in vitro e in vivo de novos cromeno[2,3-d]pirimidinonas como agentes terapêuticos para o cancro da mama triplo-negativo". Paper presented in 5th National Meeting for Young Researchers in Oncology, 2023.
  11. Correia, Joana Sofia; Monteiro-Fernandes, Daniela; Guerreiro, Sara; Ferreira-Lomba, Bruna; Cunha-Garcia, Daniela ; Gomes, Patrícia; Duarte-Silva, Sara; Maciel, Patrícia. "Assessing the HPA-axis mediated stress responses in a mouse model of SCA3". Paper presented in 11th IBRO World Congress of Neuroscience, 2023.
  12. Oliveira, Stéphanie; Duarte-Silva, Sara; Riess, Olaf; Hübener-Schmid, Jeanette; Maciel, Patrícia; Teixeira-Castro, Andreia. "Serotonergic signaling modulation as a therapeutic approach for spinocerebellar ataxia type 3: unveiling the molecular pathways". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) Meeting, 2023.
  13. Vilasboas-Campos, D.; Lopes, J.; Ferreira-Lomba, B.; Da Silva, J. D.; Costa, M. D.; Maciel, P.; Teixeira-Castro, A.. "FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity". Paper presented in International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) Meeting, 2023.
  14. Nóbrega-Martins, Rita; Guedes, Sofia; Udochukwu, Lucian; Santos, Beatriz; Campos-Marques, Carlos; Silva, Iara; Maciel, Patrícia; et al. "Therapeutical potential of tauroursodeoxycholic acid in stress-related brain pathologies". Paper presented in ISN-ESN 2023 Meeting, 2023.
  15. Vieira, Cármen; Guerreiro, Sara; Duarte-Silva, Sara; Monteiro-Fernandes, Daniela; Ferreira-Lomba, Bruna; Maciel, Patrícia; Teixeira-Castro, Andreia. "Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3". Paper presented in 2023 International Society of Neurochemistry (ISN) and the European Society of Neurochemistry (ESN) Meeting, 2023.
  16. Vieira, Cármen; Guerreiro, Sara; Duarte-Silva, Sara; Monteiro-Fernandes, Daniela; Ferreira-Lomba, Bruna; Maciel, Patrícia; Teixeira-Castro, Andreia. "Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3". Paper presented in 2023 ISN Advanced School Meeting, 2023.
  17. Duarte-Silva, Sara; Da Silva, Jorge D.; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Pereira-Sousa, Joana; Ferreira-Fernandes, Ana Rita; Rodrigues, Fernando; et al. "The glucocorticoid receptor as a biomarker and neuronal therapeutic target of a disease-improving bile acid in SCA3/MJD". Paper presented in ICVS retreat, 2023.
  18. Ferreira-Fernandes, Ana Rita; Meireles-Costa L; Duarte-Silva, Sara; Neves-Carvalho, Andreia; Almeida, Bruno; Teixeira-Castro, Andreia; Maciel, Patrícia. "Unraveling the ATXN3 interactome: clues on its contribution for physiology and disease". Paper presented in ICVS retreat, 2023.
  19. Vilasboas-Campos, Daniela; Teixeira-Castro, Andreia; Lopes, Joana; Ferreira-Lomba, Bruna; Da Silva, Jorge D.; Costa, Marta Daniela; Rodrigues, Ana Isabel ; et al. "Identification of novel molecules with proteostasis enhancement activity using a whole-animal based fast-throughput phenotypic assay". Paper presented in 6th Symposium on Medicinal Chemistry, 2023.
  20. DA SILVA, JORGE D.; Duarte-Silva, S; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana; et al. "Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  21. Da Silva, J. D.; Duarte-Silva, S.; Costa, M. D.; Neves-Carvalho, A.; Raposo, M.; Soares-Cunha, C.; Correia, J. S.; et al. "The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  22. Fernandes, J.; Vilasboas-Campos, D.; Costa, M. D.; Wang, Q.; Dias, A.; Maciel, Patrícia. "Neuroprotective effect of a Hemerocallis citrina extract in a C. elegans model of Machado-Joseph disease". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  23. Vilasboas-Campos, Daniela; Fernandes, Jorge H.; Vieira, Carmen; Teixeira-Castro, Andreia; Maciel, Patrícia; Costa, Marta Daniela. "Novel genetic modifiers of SCA3/MJD: an EMS screening in a C. elegans model of the disease". Paper presented in International Congress for Ataxia Research (ICAR 2022), 2022.
  24. Ferreira-Lomba, Bruna*; Guerreiro, Sara*; Duarte-Silva, Sara; Cunha-Garcia, Daniela; Teixeira-Castro, Andreia; Vilasboas-Campos, Daniela; Vidinha-Mira, André; et al. "Motor coordination and balance ameliorated after treatment of the CMVMJD135 mouse model of Spinocerebellar Ataxia Type 3 with befiradol". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  25. Vieira, C.; Guerreiro, S.; Duarte-Silva, S.; Soares-Cunha, C.; Ferreira-Lomba, B.; Monteiro-Fernandes, D.; Maciel, Patrícia; Teixeira-Castro, A.. "Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  26. Teixeira-Castro, A.; Pereira-Sousa, J.; Oliveira, S.; Ferreira-Lomba, B.; Guerreiro, S.; Cunha-Garcia, D.; Kleven, M. S.; et al. "Multi-modal analyses converge on the 5-HT1A serotonin receptor and CREB signaling as promising therapeutic targets for SCA3". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  27. Teixeira-Castro, A.; Duarte-Silva, S.; Oliveira, S.; Raposo, M.; Mayoral-Palarz, K.; Neves-Carvalho, A.; Paulson, H. L.; et al. "Citalopram/escitalopram for disease modification in Spinocerebellar ataxia type 3 patients: ready for translation". Paper presented in Ataxia Global Initiative (AGI) Conference 2022, 2022.
  28. Correia, J. S.; Monteiro-Fernandes, D.; Guerreiro, S.; Ferreira-Lomba, B.; Cunha-Garcia, D.; Gomes, P.; Duarte-Silva, S.; Maciel, Patrícia. "Understanding the relevance of the cerebellar cognitive affective syndrome in SCA3 mice". Paper presented in International Congress for Ataxia Research (ICAR 2022), 2022.
  29. Vilasboas-Campos, D; Lopes J; Bruna Ferreira-Lomba; DA SILVA, JORGE D.; Costa, Marta Daniela; Maciel, Patrícia; Castro, Andreia Cristiana Teixeira. "Chemical screening for novel therapeutic target identification in Machado-Joseph disease". Paper presented in 35th European College of Neuropsychopharmacology (ECNP) Congress, 2022.
  30. Ferreira-Lomba, B.*; Guerreiro, S.*; Cunha-Garcia, D.; Pereira-Sousa, J.; Duarte-Silva, S.; Teixeira-Castro, A.; Kleven, M. S.; et al. "Befiradol treatment ameliorated the motor dysfunction of Spinocerebellar Ataxia Type 3 mouse model". Paper presented in 35th European College of Neuropsychopharmacology (ECNP) Congress, 2022.
  31. Guerreiro, Sara*; Ferreira-Lomba, Bruna*; Cunha-Garcia, Daniela ; Duarte-Silva, S; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Vidinha-Mira, André; et al. "Preclinical study of a 5-HT1A receptor specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease". Paper presented in International Society for Neurochemistry-Asian Pacific Society of Neurochemistry (ISN-APSN) meeting 2022, Honolulu, USA, 2022.
  32. Monteiro-Fernandes, D.; Guerreiro, S. R.; Gomes, P.; Domingues, A. V.; Soares-Cunha, C.; Coimbra, B.; Santos, A.; et al. "Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation". Paper presented in International Society for Neurochemistry (ISN) and the Asian-Pacific Society for Neurochemistry (APSN) (ISN-APSN) 2022 Meeting, 2022.
  33. Vilasboas-Campos, D.; Duarte-Silva, S.; Monteiro-Fernandes, D.; Pereira-Sousa, J.; Neves-Carvalho, A.; Bitan, G.; Macedo-Ribeiro, S.; et al. "The molecular tweezer CLR01 reduces motor impairments and neuropathology in spinocerebellar ataxia type 3 in vivo models". Paper presented in International Society for Neurochemistry (ISN) and the Asian-Pacific Society for Neurochemistry (APSN) (ISN-APSN) 2022 Meeting, 2022.
  34. Guerreiro, S.*; Ferreira-Lomba, B.*; Cunha-Garcia, D.; Duarte-Silva, S.; Teixeira-Castro, A.; Vilasboas-Campos, D.; Vidinha-Mira, A.; et al. "Preclinical study of a 5-HT1A specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease". Paper presented in 2022 International Society of Neurochemistry (ISN) and Asian Pacific Society of Neurochemistry (APSN) Meeting, 2022.
  35. Correia, J. S.; Monteiro-Fernandes, D.; Guerreiro, S.; Ferreira-Lomba, B.; Cunha-Garcia, D.; Gomes, P.; Duarte-Silva, S.; Maciel, Patrícia. "The study of depression and cognitive comorbidities in a mouse model of spinocerebellar ataxia type 3". Paper presented in International Society of Neurochemistry (ISN) and Asian Pacific Society of Neurochemistry (APSN) 2022 Meeting, 2022.
  36. Meireles-Costa, Liliana; Neves-Carvalho, Andreia; Almeida, Bruno; Teixeira-Castro, Andreia; Maciel, Patrícia. Corresponding author: Maciel, Patrícia. "Nuclear ATXN3 DUB Physiological Substrates: Towards Understanding Their Role In The Context Of Machado-Joseph Disease". Paper presented in Federation of European Neuroscience Societies (FENS2022), 2022.
  37. Ferreira-Lomba, Bruna*; Guerreiro, Sara*; Cunha-Garcia, Daniela ; Duarte-Silva, S; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Vidinha-Mira, André; et al. "Pre- and post-symptomatic treatment with NLX-112 improved the balance and motor coordination of the CMVMJD135 mouse model of Machado-Joseph Disease". Paper presented in Federation of European Neuroscience Societies (FENS) Forum 2022, Paris, France, 2022.
  38. Vilasboas-Campos, D.; Lopes, J.; Ferreira-Lomba, B.; Da Silva, J. D.; Costa, M. D.; Maciel, Patrícia; Teixeira-Castro, A.. "Development of a high-throughput phenotypic assay to screen for chemical enhancers of proteostasis activity in Caenorhabditis elegans". Paper presented in International Neuroscience Conference at the Federation of European Neuroscience Societies (FENS), 2022.
  39. Ferreira-Lomba, B.*; Guerreiro, S.*; Cunha-Garcia, D.; Duarte-Silva, S.; Teixeira-Castro, A.; Kleven, M. S.; Vilasboas-Campos, D.; et al. "Pre and post-symptomatic treatment with NLX-112 improved the balance and motor coordination of the CMVMJD135 mouse model of Machado-Joseph Disease". Paper presented in Federation of European Neuroscience Societies (FENS) Forum 2022, Paris, France, 2022.
  40. Correia, J. S.; Monteiro-Fernandes, D.; Guerreiro, S.; Ferreira-Lomba, B.; Cunha-Garcia, D.; Gomes, P.; Duarte-Silva, S.; Maciel, Patrícia. "Stress resilience in SCA3: study of depression and cognitive comorbidities in a mouse model". Paper presented in Federation of European Neuroscience Societies (FENS) Forum 2022, 2022.
  41. Machado-Sousa, Margarida; Gonçalves, Céline S.; Neves-Carvalho, Andreia; Martins, Eduarda P.; Costa, Liliana; Duarte-Silva, S; Maciel, Patrícia; Costa, Bruno M.. "Role of the ubiquitin hydrolase ATXN3 in glioblastoma: a new tumor suppressor gene?". Paper presented in 5th ASPIC International Congress, 2022.
  42. Vieira, Carmen; Jalles, A.; Pereira-Sousa, Joana; Vilasboas-Campos, D; Mota, AF; Vasconcelos, S; Ferreira-Lomba, B; et al. "Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra – Portugal., 2021.
  43. Monteiro-Fernandes, D; Guerreiro, S; Gomes, P; Domingues, AV; Soares-Cunha, C; Coimbra, B; Santos, A; et al. "Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra – Portugal., 2021.
  44. Fernandes, AR; Costa, L; Almeida, B; Maciel, P. "Development of a cellular ATXN3 protein-protein interaction (PPI) assay for high-throughput screening of PPI modifiers". Paper presented in SPN 2021 - Sociedade Portuguesa de Neurociências, 2021.
  45. Guerreiro, S; Ferreira-Lomba, B; Duarte-Silva, S; Cunha-Garcia, D; Teixeira-Castro, A; Kleven, M. S; Vidinha-Mira, A; et al. "NLX-112 improved the motor coordination and balance in a Mouse Experimental Model of Machado-Joseph Disease". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra - Portugal., 2021.
  46. Vidinha-Mira, A; Monteiro-Fernandes, D; Guerreiro, S; Cunha-Garcia, D; Ferreira-Lomba, B; Oliveira, S; Silva, J; et al. "Can chronic activation of serotonergic signalling be atherapeutic approach for neurodegenerative diseases?". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra – Portugal., 2021.
  47. Teixeira-Castro, A; Ferreira-Lomba, B; Vilasboas-Campos, D; Pereira-Sousa, J; Oliveira, S; Maciel, P. "Suppression of proteotoxic stress by serotonergic signaling". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra – Portugal., 2021.
  48. Vilasboas-Campos, D; Lopes, J; Da Silva, J. D; Costa, M. D; Maciel, P; Teixeira-Castro, A. "Developmentof a high-throughput phenotypic assay to screen for chemical enhancers of proteostasis activity in Caenorhabditis elegans". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra – Portugal., 2021.
  49. Vidinha-Mira, A; Monteiro-Fernandes, D; Guerreiro, S; Vieira, C; Cunha-Garcia, D; Ferreira-Lomba, B; Oliveira, S; et al. "Does activation of serotonergic treatment suppressproteotoxicity in mouse models of neurodegenerative diseases?". Paper presented in 16th Young European Scientist (YES) Meeting, Porto - Portugal., 2021.
  50. Vilaça- Ferreira, A.; Duarte-Silva, S; Beltrão, Nuno; Neves-Carvalho, Andreia; Carvalho, Ana Luisa; Maciel, Patrícia. "A comprehensive characterization of the cerebellar (dys)fucntion in Spinocerebellar Ataxia Type 3". Paper presented in XIII Encontro Nacional de Estudantes de Bioquímica, 2021.
  51. Costa, Marta; Pontes, Olívia; Duarte-Silva, S; Gonçalves, Céline S.; Bessa, Carlos; Sampaio-Marques, Belém; Bruno M. Costa; et al. "A new lead compound for triple negative breast cancer therapy". Paper presented in EFMC-ISMC2021, 2021.
  52. Pontes, Olívia; Costa, Marta; Duarte-Silva, Sara; Gonçalves, Céline S.; Bessa, Carlos; Ludovico, Paula; Maciel, Patrícia; Proenca, Fernanda; Baltazar, Fátima. "A new therapeutic option for triple negative breast cancer". Paper presented in EACR2021, 2021.
  53. Correia, JS; Neves-Carvalho, Andreia; Mendes-Pinheiro, B; Pires, J; Duarte-Silva, S; Monteiro, S; Teixeira, FG; et al. "Testing the Therapeutic Potential of Mesenchymal Stem Cells and Their Secretome in an Animal Model of Spinocerebellar Ataxia Type 3". Paper presented in 8th Ataxia Investigators Meeting (AIM) 2021, Virtual event, 2021.
  54. Duarte-Silva, S; Da Silva, J. D; Neves-Carvalho, A; Raposo, M; Soares-Cunha, C; Correia, J: S; Nogueira-Gonçalves, G; et al. "Glucocorticoid receptor dysfunction as a SCA3/MJD biomarker and target for bile acid therapy". Paper presented in 8th Ataxia Investigators Meeting (AIM) 2021, Virtual event, 2021.
  55. Vidinha-Mira, André; Monteiro-Fernandes, Daniela; Guerreiro, Sara; Almeida, Bruno; Duarte-Silva, S; Maciel, Patrícia; Teixeira-Castro, Andreia. Corresponding author: Vidinha-Mira, André. "Serotonergic Signalling Activation as a Therapeutic Approach for Neurodegenerative Disorders". Paper presented in IJUP'21 - 14º Encontro de Investigação Jovem da Universidade do Porto, 2021.
  56. Vidinha-Mira, A; Monteiro-Fernandes, D; Guerreiro, S; Almeida, B; Duarte-Silva, S; Teixeira-Castro, A. "Serotonergic Signalling Activation as a Therapeutic Approach for Neurodegenerative Diseases". Paper presented in IJUP'21 - 14th Young Investigation Meeting of University of Porto, 2021.
  57. Teixeira-Castro, A; Ferreira-Lomba, B; Pereira-Sousa, J; Oliveira, S; Maciel, P. "Suppression of proteotoxicity by serotonin signaling". Paper presented in 8th Ataxia Investigators Meeting (AIM) 2021, Virtual event, 2021.
  58. Oliveira, S; Duarte-Silva, S; Da Silva, J. D; Cunha-Garcia, D; Esteves, S; Riess, O; Hübener-Schmid, J; Maciel, P; Teixeira-Castro, A. "Towards the molecular determinants of serotonergic signaling-mediated suppression of SCA3 pathogenesis". Paper presented in 8th Ataxia Investigators Meeting (AIM) 2021, Virtual event, 2021.
  59. Fernandes, Jorge H; Costa, Marta D; Wang, Qiong; Dias, Alberto C. P; Maciel, Patrícia. "Neuroprotective effects of Hemerocallis citrina extracts in Caenorhabditis elegans models of neurodegenerative diseases". Paper presented in International Conference On Medicinal And Food Plant Research & 3rd Sino-Cplp Symposium On Natural Products And Biodiversity Resources, 2021.
  60. Laranjeira, I; Vilasboas-Campos, D; Castro, A; Almeida, A; Maciel, P; Pinto-Ribeiro, F; Dias, A.C.P.. "Pterospartum tridentatum: phytochemical profile and antioxidant activity of methanolic extracts.". Paper presented in The International Conference on Medicinal and Food Plant Research & 3rd Sino-CPLP Symposium on Natural Products and Biodiversity Resources, 2021., 2021.
  61. Fonseca, M; Sediyama M; Figueira G; Vilasboas-Campos, D; Bessa C; Maciel P; Dias A.C.P. "Neuroprotective and antioxidant effects of Maranta arundinacea and Porophyllum ruderale extracts in Caenorhabditis elegans.". Paper presented in Online Internacional Phytotherapy Conference. INTERPHYTO. Mato Grosso - Brasil, 2021.
  62. Correia, J.S.; Monteiro-Fernandes, D; Guerreiro, S; Lomba, B; Cunha-Garcia, D; Gomes, P; Viana, J; Duarte-Silva, S; Maciel, P. "Do MJD mice present a cerebellar cognitive affective syndrome?". Paper presented in XVII Meeting of the Portuguese Society for Neurosciences (SPN), Coimbra – Portugal., 2021.
  63. Vilaça- Ferreira, A.; Neves-Carvalho, Andreia; Duarte-Silva, S; Maciel, Patrícia. "Neuronal communication in Spinocerebellar Ataxia Type 3: a longitudinal characterization of the synapse". Paper presented in XIX NeRD Annual Retreat, 2020.
  64. Duarte-Silva, S; Andreia Teixeira-Castro; Maciel, Patrícia. "Disease-modifying therapies for SCA3: lessons from preclinical trials". Paper presented in International Ataxia Research Conference, 2019.
  65. Pereira-Sousa, J; Jalles, A; Vilasboas-Campos,; Lomba, BMF; DA SILVA, JORGE D.; Varney, MA; Newman-Tancredi, A; Maciel, Patrícia; Teixeira-Castro, A. "Targeting of the serotonin (1A) receptor suppresses mutant ataxin-3 pathogenesis in C. elegans". Paper presented in 2019 International Ataxia Research Conference (IARC), 2019.
  66. Raposo, Mafalda; Melo, AR; Vilasboas-Campos, D; Ferreira, A; Vasconcelos, J; Alonso, Isabel; Silva, P; et al. "Identification of novel genetic modifiers of machado-joseph disease (MJD/SCA3) using whole-exome sequencing". Paper presented in International Machado-Joseph Research Disease Conference, 2019.
  67. Neves-Carvalho, Andreia; Mendes-Pinheiro, B; Correia, JS; Pires, J; Duarte-Silva, S; Monteiro, S; Teixeira, FG; et al. "Pre-clinical assessment of Mesenchymal Stem cell-based therapies in Spinocerebellar ataxia type 3". Paper presented in Ataxia Investigators Meeting, 2019.
  68. Teixeira-Castro, A; Oliveira, S; Pereira-Sousa, J; Duarte-Silva, S; Hübener-Schmid, J; Riess, O; Maciel, P. "Serotonergic signaling activation suppresses proteotoxicity". Paper presented in 2019 International Ataxia Research Conference (IARC), Washington DC - USA, 2019.
  69. Pereira-Sousa, J; Jalles, A; Vilasboas-Campos, D; Ferreira-Lomba, B; Da Silva, J.D; Varney, M. A; Newman-Tancredi, A; Maciel, P; Teixeira-Castro, A. "Targeting of serotonin (1A) receptor supresses mutant ataxin-3pathogenesis in C. elegans". Paper presented in 2019 International MJD Research Conference, Washington DC - USA, 2019.
  70. Teixeira-Castro, A; Oliveira, S.; Pereira-Sousa, J; Ferreira-Lomba, B; Duarte-Silva, S; Hübener-Schmid, J; Riess, O; Maciel, P. "Serotonergic signaling activation suppresses proteotoxicity". Paper presented in 2019 International MJD Research Conference, Washington DC - USA, 2019.
  71. Raposo M; Vieira Melo A; Vilasboas-Campos, D; Ferreira A; Vasconcelos J; Alonso I; Silva P; et al. "Identification of novel genetic modifiers of Machado-Joseph Disease (MJD/SCA3) using whole-exome sequencing.". Paper presented in 2019 International Ataxia Research Conference (IARC), Washington DC - USA, 2019.
  72. Cunha-Garcia, Daniela ; Oliveira, João Filipe; Correia, Joana Sofia; Neves-Carvalho, Andreia; Maciel, Patrícia; Duarte-Silva, S. "Impact of astrocytic calcium suppression in the pathogenesis of Machado-Joseph disease". Paper presented in Neurosciences annual retreat (ICVS/3B's), 2019.
  73. Pontes, Olívia; Costa, Marta; Duarte-Silva, S; Maciel, Patrícia; Baltazar, Fatima. "In vitro and in vivo evaluation of new chromene derivatives as potent anticancer agents". Paper presented in Porto Cancer Meeting 2019 & Porto-Bordeaux joint meeting, 2019.
  74. Fonseca, MCM; Sediyama, MAN; Figueira, GM; Vilasboas-Campos, D; Bessa, Carlos; Costa, Marta Daniela; Maciel, Patrícia; Dias, Alberto. "Neuroprotective and antioxidant effects of Maranta arundinacea and Porophyllum ruderale in Caenorhabditis elegans". Paper presented in Food Chemistry Conference, 2019.
  75. Fonseca, M; Sediyama M; Figueira G; Vilasboas-Campos, D; Bessa C; Maciel P; Dias A.C.P.. "Neuroprotective and antioxidant effects of Maranta arundinacea and Porophyllum ruderale in Caenorhabditis elegans.". Paper presented in 2nd Food Chemistry Conference, Melia Sevilla Hotel, Seville, Spain, 2019.
  76. Duarte-Silva, S; Da Silva, Jorge Diogo; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana Sofia; Nogueira-Gonçalves, G; et al. "A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease". Paper presented in European Behavioral Pharmacology Society, 2019.
  77. Da Silva, J. D; Duarte-Silva, S; Neves-Carvalho, A; Soares-Cunha, C; Correia, J.; Nogueira-Gonçalves, G; Oliveira, S; Teixeira-Castro, A; Maciel, P. "A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease". Paper presented in Joint Meeting of the International-Society-for-Neurochemistry and American-Society-for-Neurochemistry (ISN-ASN), 2019.
  78. Campos, Ana Bela; Duarte-Silva, S; Neves-Carvalho, Andreia; Nogueira-Gonçalves, G; Andreia Teixeira-Castro; Maciel, Patrícia. "Microglial and astrocytic pathology in a mouse model of Machado-Joseph disease". Paper presented in XIV European Meeting on Glial Cells in Health and Disease, 2019.
  79. Lomba, BMF; Raposo, JL; Pereira-Sousa, J; Maciel, Patrícia; Teixeira-Castro, A. "Serotonergic signaling modulation of protein homeostasis in C. elegans expressing firefly luciferase". Paper presented in Workshop on "Integrative Approaches to Protein Folding & Aggregation, 2019.
  80. Pereira-Sousa, J; Lomba, BMF; Varney, MA; Newman-Tancredi, A; Teixeira-Castro, A; Maciel, Patrícia. "NLX-112, a novel 5-HT1A receptor agonist, suppresses pathogenesis of mutant ATXN3 in C. elegans". Paper presented in Workshop on "Integrative Approaches to Protein Folding & Aggregation, 2019.
  81. Oliveira, Stéphanie; Esteves, Sofia; Duarte-Silva, S; Cunha-Garcia, Daniela ; Teixeira-Castro, Andreia; Maciel, Patrícia. "Finding molecular determinants supporting serotonergic modulation as a therapeutic approach in Machado Joseph Disease". Paper presented in ICVS Open Day, 2019.
  82. Lomba, BMF; Raposo, JL; Pereira-Sousa, J; Maciel, Patrícia; Teixeira-Castro, A. "Using luciferase mutants to study the impact of serotonergic signaling modulation of proteostasis in C. elegans". Paper presented in Workshop on "Strategies & tools for modulating pathologic protein self-assembly in proteinopathies, 2019.
  83. Oliveira, Stephanie; Esteves, S; Duarte-Silva, S; Cunha-Garcia, Daniela; Maciel, Patrícia; Teixeira-Castro, A. "Early modulation of serotonergic signaling suppresses aggregation in Spinocerebellar Ataxia 3". Paper presented in Workshop on "Strategies & tools for modulating pathologic protein self-assembly in proteinopathies, 2019.
  84. Teixeira-Castro, A; Pereira-Sousa, J; Lomba, BMF; Oliveira, Stephanie; Maciel, Patrícia. "Suppression of proteotoxicity by serotonergic signaling activation". Paper presented in Workshop on "Strategies & tools for modulating pathologic protein self-assembly in proteinopathies, 2019.
  85. Pereira-Sousa, J; Lomba, BMF; Varney, MA; Newman-Tancredi, A; Teixeira-Castro, A; Maciel, Patrícia. "NLX-112, a novel 5-HT1A receptor agonist, suppresses neuronal dysfunction in a C. elegans model of Spinocerebellar Ataxia". Paper presented in AD/PD 2019 – The 14th International Conference on Alzheimer’s & Parkinson’s Diseases, 2019.
  86. Oliveira, Stephanie; Esteves, S; Duarte-Silva, S; Cunha-Garcia, Daniela; Costa, MC; Teixeira-Castro, A; Maciel, Patrícia. "Preclinical evidence supporting serotonergic modulation as a therapeutic approach for Spinocerebellar Ataxia 3". Paper presented in AD/PD 2019 – The 14th International Conference on Alzheimer’s & Parkinson’s Diseases, 2019.
  87. Costa, MD; Da Silva, JD.; Pereira-Sousa, J; Teixeira-Castro, A; Maciel, Patrícia. "Anti-aging genetic manipulation in C. elegans impact differentially in Machado-Joseph disease". Paper presented in Workshop on "Strategies & tools for modulating pathologic protein self-assembly in proteinopathies, 2019.
  88. Torres, F.; Lopes, F; Beleza, P.; Rouleau, GA.; Maciel, Patrícia. "FERMT2, um novo gene de epilepsia". Paper presented in 31º Encontro Nacional de Epileptologia, 2019.
  89. Pereira-Sousa, J; Lomba, B; Varney, M. A; Newman-Tancredi, A; Teixeira-Castro, A; Maciel, P. "NLX-112, a novel 5-HT1A receptoragonist, suppresses pathogenesis of mutant ATXN3 in C. elegans". Paper presented in Workshop on"Strategies & tools for modulating pathologic protein self-assembly in proteinopathies", Porto - Portugal, 2019.
  90. Neves-Carvalho, Andreia; Palarz, K; Duarte-Silva, S; Khodakhah, K; Maciel, Patrícia. "Study of Cerebellar circuits (dys)function in Spinocerebellar Ataxia type 3". Paper presented in EMBO Workshop: From genes to circuits in health and disease, 2019.
  91. Neves-Carvalho, Andreia; Duarte-Silva, S; Almeida, Bruno; Heetveld, S; Sotiropoulos I; Heutink, P; Wan, KL; Maciel, Patrícia. "Regulation of neuronal mRNA splicing and Tau isoform by ATXN3 in Spinocerebellar Ataxia Type-3 transgenic mice and patients.". Paper presented in VIII National RNA Meeting: ptRNA2019, 2019.
  92. Neves-Carvalho, Andreia; Duarte-Silva, S; Silva, JM; Almeida, Bruno; Heetveld, S; Sotiropolous, I; Heutink, P; et al. "Regulation of neuronal mRNA splicing and of Tau isoforms ratio by ATXN3 through deubiquitylation of splicing factors". Paper presented in RNA Meeting: ptRNA2019, 2019.
  93. Neves-Carvalho, Andreia; Mendes-Pinheiro, B; Correia, SJ; Pires, J; Duarte-Silva, S; Monteiro, S; Teixeira, FG; et al. "Pre-clinical study of mesenchymal stem cells transplantation and their secretome administration in an animal model of Spinocerebellar ataxia type 3". Paper presented in International Ataxia Research Conference, 2019.
  94. Neves-Carvalho, Andreia; Mendes-Pinheiro, B; Correia, SJ; Pires, J; Duarte-Silva, S; Monteiro, S; Teixeira, FG; et al. "Testing the therapeutic potential of mesenchymal stem cells and their secretome in an animal model of SCA3". Paper presented in EMBO workshop: from genes to disease, 2019.
  95. Martins, Sandra; Costa, IPD; Giunti, P.; Watanabe, M.; Sasaki, H.; Almeida, BC; Amorim, A; et al. "The Joseph and Machado lineages and their sublineages in families with Machado-Joseph disease spread worldwide". Paper presented in International Ataxia Research Conference (IARC), 2019.
  96. Pereira-Sousa, Joana; Ferreira-Lomba, Bruna; Varney, Mark A.; Newman-Tancredi, Adrian; Teixeira-Castro, Andreia; Maciel, Patrícia. "NLX-112, a novel 5-HT1A receptor agonist, supresses neuronal dysfunction in a C. elegans model of Spinocerebellar Ataxia". Paper presented in 14th International Conference on Alzheimer's and Parkinson's Diseases, 2019.
  97. Da Silva, JD.; Costa, M.; Almeida, D.; Jalles, A.; Teixeira-Castro, A.; Maciel, P.. "Genetic and pharmacological modifiers of ATXN3 proteotoxicity converge to antioxidant response pathways". Paper presented in 7th AIM, 2018.
  98. Bessa, C.; Gave, A.; Maciel, P.. "Functional analysis of UPS genes linked to developmental disorders, in C. elegans". Paper presented in FENS, 2018.
  99. Campos, DV.; Bessa, C.; Costa, M.; Teixeira-Castro, A.; Maciel, P.; Dias, A.. "Antioxidant and neuroprotective effects of Hyptis suaveolens, Hyptis pectinata and Hyptis marrubioides in Caenorhabditis elegans". Paper presented in Antioxidant and neuroprotective effects of Hyptis suaveolens, Hyptis pectinata and Hyptis marrubioides in Caenorhabditis elegans, 2018.
  100. Neves-Carvalho, A.; Mendes-Pinheiro, B.; Correia, JS.; Pires, J.; Duarte-Silva, S.; Monteiro, S.; Teixeira, FG.; et al. "Testing the Therapeutic Potential of Mesenchymal Stem Cells and Their Secretome in an Animal Model of Spinocerebellar Ataxia Type 3". Paper presented in AIM, 2018.
  101. Schmidt, T.; Wang, Z.; Sowa, A.; Schmidt, J.; Anders, M.; Martins, M. I.; de Castro, A.; et al. "Targeting the Intracellular Localization of Ataxin-3 as Novel Treatment Strategy for Spinocerebellar Ataxia Type 3". Paper presented in 21st International Congress of Parkinson's Disease and Movement Disorders, 2018.
  102. Pohl, F.; Teixeira-Castro, A.; Maciel, P.; Goua, M.; Bermano, G.; Russell, W.; Lin, PKT. "Utilization of Rapeseed Pomace (RSP) Extracts in the Prevention of Neurological Impairment in a C. elegans Model of Machado-Joseph Disease (MJD)". Paper presented in AIM, 2018.
  103. Teixeira-Castro, A.; Esteves, S.; Ashraf, NS.; Oliveira, S.; Duarte-Silva, S.; Paulson, Hl.; Costa, MC.; Maciel, P.. "Preclinical evidence supporting early initiation of citalopram treatment in Machado-Joseph disease: findings in two mouse models". Paper presented in AIM, 2018.
  104. Bettencourt, C.; Fialho, RN.; Montiel, R.; Santos, C.; Maciel, P.; Brugues-Armas, J.; Lima, M.. "Segregation patterns of CAG repeats in the MJD locus: a study in normal families from the Azores Islands (Portugal)". Paper presented in European Human Genetics Conference, 2017.
  105. Almeida, Bruno; Neves-Carvalho, Andreia; Macedo-Ribeiro, Sandra; Maciel, Patrícia. "Macromolecular interactions and posttranslational modifications acting as Machado-Joseph Disease modifiers". Paper presented in XV Meeting of the Portuguese Society for Neuroscience, 2017.
  106. Azzarello-Burri, SM.; Joset, P.; Andrieux, J.; Lopes, F.; Palmer, EE.; Czeschik, JC.; Demeer, B.; et al. "Further Delineation of a novel 2q11.1q11.2 Microduplication syndrome". Paper presented in European Human Genetics Conference, 2017.
  107. Ashraf, NS.; Duarte-Silva, S.; Maciel, P.; Paulson, Hl.; Teixeira-Castro, A.. "Citalopram reduces aggregation of ATXN3 in a YAC transgenic mouse model of Machado- Joseph disease". Paper presented in IARC, 2017.
  108. Costa, MC.; Radzwion, M.; Utecht, L.; Ashraf, NS.; Shakkottai, VG.; Maciel, P.; Paulson, Hl.; Öz, G.. "Transgenic mouse models of Machado-Joseph disease show cerebellar neurochemical profiles similar to that of patients". Paper presented in IARC, 2017.
  109. Costa, M.; Almeida, D.; Teixeira-Castro, A.. "Lifespan-increasing genetic mutations differentially modify disease progression in a Caernohabditis elegans model of Machado-Joseph disease". Paper presented in IARC, 2017.
  110. Neves-Carvalho, A.; Almeida, B.; Duarte-Silva, S.; Silva, J.; Heetveld, S.; Sotiropoulos, I.; Heutink, P.; Li, KW.; Maciel, P.. "ATXN3 modulates mRNA splicing of Tau and other neuronal genes through ubiquitylation of splicing factors". Paper presented in International Society for Neurochemistry, 2017.
  111. Silva-Fernandes, A.; Duarte-Silva, S.; Carpenter, S.; Maciel, P.. "Skeletal muscle dysfunction during the disease progression in a mouse model of SCA3". Paper presented in SPBQ, 2017.
  112. Almeida, F.; Ferreira, IL.; Naia, L.; Duarte-Silva, S.; Maciel, P.; Rego, AC.. "Machado-Joseph disease models exhibit compromised mitochondrial function and dynamics". Paper presented in Portuguese Society of Pharmacology, 2017.
  113. Teixeira-Castro, A.; Jalles, A.; Esteves, S.; Santos, LS.; Oliveira, S.; Duarte-Silva, S.; Morimoto, RI.; et al. "Serotonergic signaling suppresses ataxin-3 proteotoxicity". Paper presented in AtaxiaUK, 2017.
  114. Duarte-Silva, S.; Neves-Carvalho, A.; Silva, J.; Silva-Fernandes, A.; Maciel, P.. "Beneficial effect of creatine-supplemented diet in a mouse model of Machado-Joseph disease". Paper presented in Sociedade Portuguesa de Genética Humana, 2017.
  115. Duque, F.; Rosmaninho-Salgado, F.; Café, C.; Mouga, S.; Sousa, D.; Oliveira, A.; Ferreira, S.; et al. "Monogenic disorders associated with ASD in a large Portuguese sample". Paper presented in INSAR, 2017.
  116. Duarte-Silva, S.; Neves-Carvalho, A.; Nogueira-Gonçalves, G.; Silva-Fernandes, A.; Teixeira-Castro, A.; Maciel, P.. "Contribution of glial cells for the pathogenesis of Machado-Joseph disease". Paper presented in Glia, 2017.
  117. Costa, M.; Almeida, D.; Teixeira-Castro, A.; Maciel, P.. "Genetic anti-aging manipulations differentially modify disease manifestations and protein aggregation in a Caernohabditis elegans model of Machado-Joseph disease". Paper presented in ISN, 2017.
  118. Maciel, P.. "The “rarification” of common diseases". Paper presented in Rare Diseases, 2017.
  119. Pohl, F.. "Revalorisation of rapeseed pomace extract: a study into its anti-oxidant, DNA protective properties (in vitro) and effects in neurodegenerative disease C. elegans models". Paper presented in Natural product meeting, 2017.
  120. Oliveira, Stéphanie; Duarte-Silva, S; Esteves, Sofia; Cunha-Garcia, Daniela ; Maciel, Patrícia; Carvalho, A L; Teixeira-Castro, Andreia. "Serotonergic modulation of the proteostasis network and glutamatergic neurotransmission: impact on MJD". Paper presented in Neurosciences annual retreat (ICVS/3B's), 2017.
  121. Teixeira-Castro, A.; Jalles, A.; Esteves, S.; Kang, SS.; Neto, M.; Brielmann, R.; Bessa, C.; et al. "A whole organism screen identifies serotonergic signaling as modulator of Machado-Joseph disease pathogenesis". Paper presented in 5th Ataxia Investigator Meeting, 2014.
  122. Duarte-Silva, S.; Esteves, S.; Neves-Carvalho, A.; Soares-Cunha, C.; Teixeira-Castro, A.; Oliveira, P.; Silva-Fernandes, A.; Maciel, P.. "Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease". Paper presented in Ataxia Investigator Meeting, 2014.
  123. Neves-Carvalho, A.; Freitas, A.; Logarinho, E.; Duarte-Silva, S.; Costa, MC.; Silva-Fernandes, A.; Martins, A.; et al. "Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells". Paper presented in Ataxia Investigator Meeting, 2014.
  124. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Maciel, P.. "Creatine food supplementation improves the motor phenotype of a transgenic mouse model of Machado-Joseph disease". Paper presented in 17ª reunião da Sociedade Portuguesa de Genética Humana, 2013.
  125. Neves-Carvalho, A.; Martins, A.; Freitas, A.; Logarinho, E.; Duarte-Silva, S.; Heutink, P.; Relvas, J.; Maciel, P.. "Ataxin-3 deubiquitylase contributes to neuronal differentiation through the modulation of alfa-5 integrin levels". Paper presented in XXII reunião da Sociedade Portuguesa de Neurociências, 2013.
  126. Silva-Fernandes, A.; Duarte-Silva, S.; Neves-Carvalho, A.; Amorim, M.; Soares-Cunha, C.; Oliveira, P.; Thirstrup, K.; Teixeira-Castro, A.; Maciel, P.. "17-DMAG induces autophagy and delays disease progression of the motor phenotype and neuropathology in a new transgenic mouse model of Machado-Joseph disease". Paper presented in Gordon Research Conferences: CAG Triplet Repeat Disorders. Basic Science to Therapeutics, 2013.
  127. Barbosa, M.; Soares, G.; Lopes, F.; Sousa, S.; Temudo, T.; Gomes, C.; Maciel, P.. "6q25.3 deletion encompassing ARID1B in a patient with intellectual disability and aggressive behavior". Paper presented in European Society of Human Genetics, 2013.
  128. Esteves, S.; Teixeira-Castro, A.; Silva-Fernandes, A.; Maciel, P.. "Citalopram as a candidate therapeutic agent for Machado-Joseph Disease". Paper presented in XXII Reunião da Sociedade Portuguesa de Neurociências, 2013.
  129. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Amorim, M.; Soares-Cunha, C.; Oliveira, P.; Teixeira-Castro, A.; Maciel, P.. "17-DMAG induces autophagy and delays disease progression in a mouse model of Machado-Joseph disease". Paper presented in XXII Reunião da Sociedade Portuguesa de Neurociências, 2013.
  130. Neves-Carvalho, A.; Martins, A.; Freitas, A.; Logarinho, E.; Duarte-Silva, S.; Heutink, P.; Relvas, J.; Maciel, P.. "Loss of function of the deubiquitylase Ataxin-3 reduces alfa-5 integrin subunit levels and leads to abnormal neuronal differentiation process". Paper presented in XXXVIII Jornadas Portuguesas de Genética, 2013.
    10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a2697
  131. Freitas, A.; Neves-Carvalho, A.; Marslin, R.; Logarinho, E.; Maciel, P.. "Overexpression of wild-type, expanded and catalytically inert ATXN3 in neuroblastoma cell lines: effects on cytoskeleton organization and cell adhesion". Paper presented in XXXVIII Jornadas Portuguesas de Genética, 2013.
  132. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Soares-Cunha, C.; Teixeira-Castro, A.; Maciel, P.. "Autophagy induction as a therapeutic target for Machado-Joseph disease: 17-DMAG and lithium chloride". Paper presented in XXXVIII Jornadas Portuguesas de Genética, 2013.
  133. Neves-Carvalho, A.; Martins, A.; Freitas, A.; Silva-Fernandes, A.; Teixeira-Castro, A.; Sampaio-Marques, B.; Heutink, P.; Maciel, P.. "Stable silencing of Ataxin-3 leads to abnormal differentiation in neuronal cells". Paper presented in New Frontiers in Neurodegenerative Disease Research, 2013.
  134. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "17-DMAG, an Hsp90 inhibitor, improves the motor phenotype and neuropathology of a transgenic mouse model of Machado-Joseph disease". Paper presented in New Frontiers in Neurodegenerative Disease Research, 2013.
  135. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "17-DMAG, an Hsp90 inhibitor, improves the motor phenotype and neuropathology of a transgenic mouse model of Machado-Joseph disease". Paper presented in 16ª reunião da Sociedade Portuguesa de Genética Humana, 2012.
  136. Lopes, F.; Fortuna, AM.; Sousa, S.; Silva, J.; Gomes, C.; Maciel, P.; Barros, G.. "7q33 deletion in a family with intellectual disability, dysmorphic features and behavioral changes". Paper presented in Sociedade Portuguesa de Genética Humana, 2012.
  137. Jalles, A.; Teixeira-Castro, A.; Martins-Araújo, M.; Miranda, A.; Bessa, C.; Maciel, P.. "Searching for therapeutic compounds in a C. elegans model of Machado-Joseph disease". Paper presented in Ataxia Research Conference, 2012.
  138. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "17-DMAG, an Hsp90 inhibitor, improves the phenotype of a transgenic mouse model of Machado-Joseph disease". Paper presented in EURON Workshop “Drugs and the Brain”, 2012.
  139. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "Lithium treatment does not ameliorate the phenotype of a new transgenic mouse model of Machado-Joseph disease". Paper presented in 6th National Meeting on Cell Signaling (SINAL), 2012.
  140. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "Lithium treatment does not ameliorate the phenotype of a new transgenic mouse model of Machado-Joseph disease". Paper presented in 4th Ataxia Investigator Meeting, 2012.
  141. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "Lithium treatment does not ameliorate the phenotype of a new transgenic mouse model of Machado-Joseph disease". Paper presented in Wellcome Trust Conference "Mouse models of disease: linking in vivo observations to pathology endpoints”, 2012.
  142. Teixeira-Castro, A.; Jalles, A.; Morimoto, RI.; Maciel, P.. "Impact of aging-related pathways in mutant ataxin-3-mediated pathogenesis". Paper presented in Society for Neurosciences, 2011.
  143. Lopes, F.; Silva, J.; Sousa, S.; Soares, G.; Barbosa, M.; Temudo, T.; Rocha, M.; et al. "Adding to the non-consensual phenotype of 1q43-q44 deletions: a case with AKT3 deletion". Paper presented in 15ª Reunião da Sociedade Portuguesa de Genética Humana, 2011.
  144. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Soares-Cunha, C.; Maciel, P.. "A novel transgenic mouse model of Machado-Joseph disease: genetic, phenotypic and pathologic similarities with the human disease". Paper presented in 12th International Congress of Human Genetics, 2011.
  145. Barbosa, M.; Bessa, C.; Lopes, F.; Lopes, S.; Soares, G.; Silva, J.; Temudo, T.; et al. "intellectual disability: searching for the key cognition genes". Paper presented in 12th International Congress of Human Genetics, 2011.
  146. Lopes, F.; Lopes, S.; Bessa, C.; Soares, G.; Silva, J.; Barbosa, M.; Temudo, T.; et al. "New genomic imbalances detected by aCGH in patients with intellectual disability: searching for the key cognition genes". Paper presented in 15th International workshop on Fragile X and other early-onset cognitive disorders, 2011.
  147. Teixeira-Castro, A.; Ailion, M.; Jalles, A.; Brignull, HR.; Vilaça, JL.; Dias, N.; Rodrigues, P.; et al. "Modeling MJD in C. elegans: genetic and pharmacological rescue". Paper presented in Gordon Research Conference on “CAG Triplet Repeat Disorders, 2011.
  148. Kazachkova, NI.; Raposo, M.; Montiel, M.; Bettencourt, C.; Cymbron, T.; MacIel, P.; Lima, M.. "MtDNA dysfunction in a transgenic mouse model of Machado-Joseph Disease (MJD)". Paper presented in European Human Genetics Conference, 2011.
  149. Teixeira-Castro, A.; Ailion, M.; Jalles, A.; Brignull, HR.; Vilaça, JL.; Dias, N.; Rodrigues, P.; et al. "Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by DAF-16 and HSF-1 pathways". Paper presented in XII reunião anual da Sociedade Portuguesa de Neurociências, 2011.
  150. Bessa, C.; Lopes, F.; Soares, G.; Silva, J.; Barbosa, M.; Rocha, M.; Reis-Lima, M.; et al. "New microdeletion/microduplications detected by aCGH in patients with intelectual disability: seacrh for the key genes". Paper presented in Conferência Internacional Jerôme Lejeune "Genetic intellectual disabilities: progress toward targeted treatments?", 2011.
  151. Beleza, P.; Lopes, F.; Ylstra, B.; Weiss, J.; Sistermans, E.; Maciel, P.. "Whole genome copy number variation analysis in a family with idiopathic generalized epilepsy". Paper presented in 23º Encontro Nacional de Epileptologia, 2011.
  152. Bettencourt, C.; Raposo, M.; Santos, C.; Vasconcelos, J.; Maciel, P.; Lima, M.. "Variation in the age at onset of Machado-Joseph disease: the influence of the APOE polymorphism". Paper presented in 6th Meeting on Neurodegenerative Diseases: Biology & Therapeutics, 2010.
  153. Bettencourt, C.; Silva, F.; Raposo, M.; Santos, C.; Kay, T.; Vasconcelos, J.; Maciel, P.; Bruges-Armas, J.; Lima, M.. "5’ Regulatory Regions of Machado-Joseph Disease Gene (ATXN3): Sequence Analysis in Patients and Controls". Paper presented in 6th Meeting on Neurodegenerative Diseases: Biology & Therapeutics, 2010.
  154. Duarte-Silva, S.; Silva-Fernandes, A.; Neves-Carvalho, A.; Teixeira-Castro, A.; Maciel, P.. "A novel transgenic mouse of Machado-Joseph disease: autophagy as a potential therapeutical approach". Paper presented in 6th Meeting on Neurodegenerative diseases: Biology and Therapeutics, 2010.
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  155. Teixeira-Castro, A.; Ailion, M.; Jalles, A.; Neves-Carvalho, A.; Morimoto, RI.; Maciel, P.. "Genetic and pharmacologic modulation of the HSF-1 pathway rescues neuronal proteotoxicity in a C. elegans model of Machado-Joseph disease". Paper presented in 6th Meeting on Neurodegenerative diseases: Biology and Therapeutics, 2010.
  156. Sousa, S.; Lopes, F.; Silva, J.; Gomes, C.; Ylstra, B.; Weiss, J.; Sistermans, E.; Maciel, P.. ""CUL4B gene duplication in a portuguese patient with intelectual disability detected by aCGH and qPCR"". Paper presented in 15ª Reunião da Sociedade Portuguesa de Genética Humana, 2010.
  157. Lopes, F.; Antunes, H.; Barros, G.; Ylstra, B.; Weiss, J.; Sistermans, E.; Maciel, P.. "Small 3q29 microduplication covering the genes KIAA0226 and MIR922 in a girl with severe obesity, intelectual disability and microcephaly". Paper presented in 14ª Reunião da Sociedade Portuguesa de Genética Humana, 2010.
  158. Lopes, S.; Soares, G.; Lopes, F.; Gomes, C.; Barros, G.; Maciel, P.. "A frameshift mutation in Polyglutamine Binding Protein 1 (PQBP1) gene in a Portuguese patient with X-linked mental retardation". Paper presented in da Sociedade Portuguesa de Genética Humana, 2010.
  159. Silva, B.; Carvalho, F.; Neves-Carvalho, A.; Maciel, P.; Rodrigues, AJ.. "Phenotypic characterization of isu-1 knockdown animals". Paper presented in XXXV Jornadas Portuguesas de Genética, 2010.
  160. Lopes, F.; Lopes, S.; Soares, G.; Gomes, C.; Barros, G.; Maciel, P.. "Identification of a dinucleotide deletion in the Polyglutamine Binding Protein 1 (PQBP1) gene causing syndromic mental retardation in a male patient and epilepsy in his heterozygous mother". Paper presented in Jacques Monod Conference "Mental retardation: from genes to synapses, functions and dysfunctions",, 2010.
  161. Lopes, F.; Soares, G.; Barbosa, M.; Silva, J.; Rocha, M.; Barros, G.; Gomes, C.; Temudo, T.; Maciel, P.. "aCGH analysis of Portuguese patients with idiopathic mental retardation". Paper presented in Jacques Monod Conference, "Mental retardation: from genes to synapses, functions and dysfunctions", 2010.
  162. Carvalho, A.; Rodrigues, AJ.; Teixeira-Castro, A.; Maciel, P.. "Absence of ataxin-3 leads to enhanced stress response in C. elegans". Paper presented in EMBO Pratical Course on Ubiquitin and SUMO, 2010.
  163. Carvalho, A.; Rodrigues, AJ.; Teixeira-Castro, A.; Maciel, P.. "Absence of ataxin-3 leads to enhanced stress response in C. elegans". Paper presented in 1st Conference on Proteomics of Protein Degradation & Ubiquitin Pathways, 2010.
  164. Maciel, P.; Silva-Fernandes, A.; Duarte-Silva, S.; Costa, MC.. "CAG tract length modulates the severity of symptoms in a transgenic mouse model of MJD/SCA3". Paper presented in FENS, 2010.
  165. Bettencourt, C.; Santos, C.; Montiel, R.; Costa, MC.; Cruz-Morales, P.; Santos, LR.; Simões, N.; et al. "Contributions of alternative splicing to transcript diversity: novel variants of Machado-Joseph Disease gene (ATXN3)". Paper presented in European Human Genetics Conference, 2010.
  166. Duarte-Silva, S.; Silva-Fernandes, A.; Costa, MC.; Maciel, P.. "Aging, Genetic background and parental gender modulate the CAG repeat instability pattern in a transgenic mouse model of Machado-Joseph disease". Paper presented in XXXV Jornadas Portuguesas de Genética, 2010.
  167. Duarte-Silva, S.; Silva-Fernandes, A.; Costa, MC.; Maciel, P.. "No evidence for apoptosis or necrosis in spite of neurodegeneration in a transgenic mouse model of MJD/SCA3". Paper presented in XXXV Jornadas Portuguesas de Genética, 2010.
  168. Mota, C.; Neves-Carvalho, A.; Rodrigues, AJ.; Castro, A.; Maciel, P.. "Molecular determinants of ataxin-3 knockouts thermoresistance phenotype". Paper presented in XXXV Jornadas Portuguesas de Genética, 2010.
  169. Lopes, S.; Lopes, F.; Soares, G.; Gomes, C.; Barros, G.; Maciel, P.. "Identification of an exonic deletion in the Polyglutamine Binding Protein 1 (PQBP1) gene causing syndromic mental retardation in a male patient and epilepsy in his heterozygous mother". Paper presented in XXXV Jornadas Portuguesas de Genética, 2010.
  170. Rodrigues, AJ.; Neves-Carvalho, A.; Teixeira-Castro, A.; Rokka, A.; Corthals, GL.; Logarinho, E.; Maciel, P.. "Increased thermotolerance and hormesis in the absence of ataxin-3 in C. elegans". Paper presented in XXXV Jornadas Portuguesas de Genética, 2010.
  171. Costa, MC.; Bajanca, F.; Rodrigues, AJ.; Tomé, RJ.; Corthals, G.; Macedo-Ribeiro, S.; Paulson, Hl.; Logarinho, E.; Maciel, P.. "Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels". Paper presented in EMBO meeting on Proteolysis & Neurodegeneration, 2010.
  172. Rodrigues, AJ.; Costa, MC.; Silva, T.; Bajanca, F.; Logarinho, E.; Maciel, P.. "Ataxin-3 is a microtubule-associated protein with a role in cytoskeletal organization". Paper presented in EMBO meeting on Proteolysis & Neurodegeneration, 2010.
    10.1063/1.5095923
  173. Rodrigues, AJ.; Neves-Carvalho, A.; Teixeira-Castro, A.; Rokka, A.; Corthals, GL.; Logarinho, E.; Maciel, P.. ". Increased thermotolerance and hormesis in the absence of ataxin-3 in C. elegans". Paper presented in EMBO meeting on Proteolysis & Neurodegeneration, 2010.
  174. Duarte-Silva, S.; Silva-Fernandes, A.; Costa, MC.; Maciel, P.. "No evidence for apoptosis or necrosis in spite of neurodegeneration in a transgenic mouse model of MJD/SCA3". Paper presented in Proteolysis & Neurodegeneration, 2010.
  175. Teixeira-Castro, A.; Morimoto, RI.; Maciel, P.. "Opposing effects of distinct aging-related pathways in a pan-neuronal C. elegans model of Machado-Joseph disease". Paper presented in Ataxia Investigator Meeting, 2010.
  176. Bettencourt, C.; Silva, F.; Raposo, M.; Santos, C.; Kay, T.; Vasconcelos, J.; Maciel, P.; Bruges-Armas, J.; Lima, M.. "Sequence Analysis of 5’ Regulatory Regions of Machado-Joseph Disease Gene (ATXN3) in Patients and Controls". Paper presented in 13th Portugaliæ Genetica, 2010.
  177. Silva-Fernandes, A.; Costa, MC.; Duarte-Silva, S.; Costa, C.; Oliveira, P.; Maciel, P.. "Genotype-Phenotype correlation in a transgenic mouse model of Machado-Joseph disease". Paper presented in 61st Annual Meeting of the American Academy of Neurology, 2009.
  178. Santos, M.; Summavielle, T.; Silva-Fernandes, A.; Teixeira-Castro, A.; Dierssen, M.; Oliveira, P.; Sousa, N.; Maciel, P.. "Age- and region-specific analysis of monoaminergic systems in the brain of Mecp2-null mice implies the prefrontal and motor cortices in the earliest stages of disease". Paper presented in 61st Annual Meeting of the American Academy of Neurology, 2009.
  179. Teixeira-Castro, A.; Morimoto, RI.; Maciel, P.. "Ataxin-3 protein context and cell-specific factors modulate polyQ-mediated neuronal aggregation in a C. elegans model of Machado-Joseph disease". Paper presented in IV Meeting on the Molecular Mechanisms of Neurodegeneration, 2009.
  180. Barreirinho, MS.; Santos, M.; Barbot, C.; Costa, E.; Maciel, P.; Ferro, A.; Basto, JP.; et al. "Retrospective study of risk factors for pediatric stroke". Paper presented in 16th International Congress on Thrombosis, 2009.
  181. Bettencourt, C.; Cruz-Morales, P.; Montiel, R.; Maciel, P.; Lima, M.. "Novel ataxin-3 isoforms predicted from alternative splicing variants". Paper presented in V International Workshop on Machado-Joseph disease, 2009.
  182. Costa, MC.; Bajanca, F.; Rodrigues, AJ.; Tomé, RJ.; Paulson, Hl.; Macedo-Ribeiro, S.; Logarinho, E.; Maciel, P.. "Ataxin-3 plays a role in myogenic differentiation through regulation of integrin subunits". Paper presented in V International Workshop on Machado-Joseph disease, 2009.
  183. Rodrigues, AJ.; Costa, MC.; Silva, T.; Logarinho, E.; Maciel, P.. "Ataxin-3 is a microtubule-associated protein with a role in cytoskeletal organization". Paper presented in V International Workshop on Machado-Joseph disease, 2009.
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  184. Silva-Fernandes, A.; Costa, MC.; Duarte-Silva, S.; Costa, C.; Maciel, P.. "CAG-dependent motor phenotype in a transgenic mouse model of Machado-Joseph disease". Paper presented in V International Workshop on Machado-Joseph disease, 2009.
  185. Duarte-Silva, S.; Silva-Fernandes, A.; Costa, MC.; Maciel, P.. "Aging, genetic background and parental gender modulate the CAG repeat instability pattern in a transgenic mouse model of Machado-Joseph disease". Paper presented in V International Workshop on Machado-Joseph disease, 2009.
  186. Costa, MC.; Tomé, RJ.; Paulson, Hl.; Macedo-Ribeiro, S.; Logarinho, E.; Maciel, P.. "Ataxin-3: a role in the SCF complex?". Paper presented in Keystone Symposium “Neurodegenerative Diseases: New Molecular Mechanisms (J5)", 2009.
  187. Lopes, F.; Medeira, A.; Calado, E.; Dias, AI.; Sá, J.; Cabral, A.; Oliveira, G.; et al. "CDKL5 mutation screening in Rett-like Portuguese patients negative for MECP2 mutations". Paper presented in 13a Reunião da Sociedade Portuguesa de Genética Humana, 2009.
  188. Rodrigues, AJ.; Carvalho, A.; Teixeira-Castro, A.; Rokka, A.; Corthals, GL.; Logarinho, E.; Maciel, P.. "Absence of ataxin-3 leads to increased thermotolerance and hormesis in C. elegans". Paper presented in 12ª Reunião da Sociedade Portuguesa de Genética Humana, 2008.
  189. Bettencout, C.; Montiel, R.; Santos, C.; Kay, T.; Vasconcelos, J.; Fialho, RN.; Bruges-Armas, J.; Maciel, P.; Lima, M.. "Sizing of the (CAG)n tract of Machado-Joseph disease gene (ATXN3): from DNA to mRNA". Paper presented in XVI Congresso Nacional de Bioquímica, 2008.
  190. Costa, MC.; Bajanca, F.; Rodrigues, AJ.; Tomé, RJ.; Macedo-Ribeiro, S.; Logarinho, E.; Maciel, P.. "Ataxin-3: a deubiquitinating role in myogenic differentiation through UPS regulation of alpha-5 integrin subunit". Paper presented in Functional Genomics, 2008.
  191. Costa, MC.; Tomé, RJ.; Ribeiro, SM.; Logarinho, E.; Maciel, P.. "Ataxin-3: a role in the SCF complex?". Paper presented in 6th FENS Forum of European Neuroscience, 2008.
  192. Rodrigues, AJ.; Carvalho, A.; Ferro, A.; Corthals, G.; Logarinho, E.; Maciel, P.. "ATX-3, CDC-48 and UBXN-5: a new molecular complex in C. elegans". Paper presented in ESF Symposium on Functional Genomics, 2008.
  193. Teixeira-Castro, A.; Silva-Fernandes, A.; Duarte-Silva, S.; Costa, M.; Oliveira, P.; Saraiva, M.; Maciel, P.. "Genetic interaction between Machado-Joseph disease mutant gene and the heat shock response machinery". Paper presented in ESF meeting on Functional Genomics, 2008.
  194. Santos, M.; Teixeira-Castro, A.; Silva-Fernandes, A.; Tavares, H.; Sousa, N.; Maciel, P.. "Absence of MeCP2 increases postnatal dentate gyrus cell proliferation in a mouse model of Rett syndrome". Paper presented in 6th FENS Forum of European Neuroscience, 2008.
  195. Silva-Fernandes, A.; Costa, MC.; Silva, S.; Teixeira-Castro, A.; Cerqueira, JJ.; Costa, C.; Maciel, P.. "Motor impairment and brain pathology in a transgenic mouse model of Machado-Joseph disease". Paper presented in Annual meeting of the Society for Neurosciences, 2008.
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  196. Teixeira-Castro, A.; Morimoto, RI.; Maciel, P.. "In vivo dynamics of human ataxin-3 aggregation and neurotoxicity in C. elegans neuronal cells is modulated by Q-length and age". Paper presented in In vivo dynamics of human ataxin-3 aggregation and neurotoxicity in C. elegans neuronal cells is modulated by Q-length and age, 2008.
  197. Santos, M.; Silva-Fernandes, A.; Oliveira, P.; Sousa, N.; Maciel, P.. "Delayed achievement of developmental milestones in a mouse model of Rett syndrome". Paper presented in 4th Cajal Winter Conference, 2008.
  198. Silva-Fernandes, A.; Costa, C.; Oliveira, P.; Sousa, N.; Maciel, P.. "Motor impairment and behavioral abnormalities associated with installed spontaneous epilepsy in the FVB/N mouse strain: correlation with neuropathology". Paper presented in 37th annual meeting of the Society for Neuroscience, 2007.
  199. Silva-Fernandes, A.; Costa, MC.; Costa, C.; Maciel, P.. "A new transgenic mouse model of Machado-Joseph disease presenting motor impairment and brain pathology". Paper presented in 3rd Meeting on the Molecular Mechanisms of Neurodegeneration, 2007.
  200. Teixeira-Castro, A.; Maciel, P.; Morimoto, RI.. "In vivo ataxin-3 aggregation dynamics in C. elegans neurons". Paper presented in 10ª Reunião da Sociedade Portuguesa de Neurociências, 2007.
  201. Silva-Fernandes, A.; Costa, MC.; Oliveira, P.; Sousa, N.; Maciel, P.. "Motor and behavioural abnormalities associated with installed spontaneous epilepsy in the FVB/N mouse strain". Paper presented in 10ª Reunião da Sociedade Portuguesa de Neurociências, 2007.
  202. Silva-Fernandes, A.; Costa, MC.; Costa, C.; Maciel, P.. "Motor phenotype and brain pathology in a transgenic mouse model of Machado-Joseph disease". Paper presented in 10ª Reunião da Sociedade Portuguesa de Neurociências, 2007.
  203. Bettencourt, C.; Fialho, RN.; Montiel, R.; Santos, C.; Maciel, P.; Bruges-Armas, J.; Lima, M.. "Segregation ratio distortion and population distribution of wild-type MJD alleles: a study in Azorean families". Paper presented in X Portugaliae Genetica, 2007.
  204. Mesquita, AR.; Pêgo, JM.; Summavielle, T.; Maciel, P.; Almeida, OFX.; Sousa, N.. "Neurodevelopmental impact of stress in early post-natal period". Paper presented in IBRO Meeting, 2007.
  205. Teixeira-Castro, A.; Maciel, P.; Morimoto, RI.. "In vivo dynamics of ataxin-3 aggregation in C. elegans neurons". Paper presented in In vivo dynamics of ataxin-3 aggregation in C. elegans neurons, 2007.
  206. Costa, MC.; Santos, C.; Maciel, P.. "Mjd: a stress-responsive gene?". Paper presented in Link-Age Meeting, 2007.
  207. Rodrigues, AJ.; Coppola, G.; Siegel, A.; Levan, S.; Davis-Turak, J.; Maciel, P.; Geschwind, D.H.. "Geschwind DH. Knockdown of Isu1 ortholog causes larval arrest, decreased life span and brood size, and developmental abnormalities in C. elegans". Paper presented in International Worm Meeting, 2007.
  208. Santos, C.; Cerqueira, J.; Magalhães, P.; Costa, MC.; Jardim, LB.; Maciel, P.; Sequeiros, J.. "Huntington disease and Huntington disease-like phenotype: 9 years of diagnosis experience". Paper presented in 11ª Reunião da Sociedade Portuguesa de Genética Humana, 2007.
  209. Sousa, J.; Teixeira-Castro, A.; Costa, M.; Maciel, P.. "Learning the biochemical basis of axonal migration: use of Caenorhabditis elegans as a model". Paper presented in Annual Meeting of the Society for Neuroscience, 2007.
  210. Ferro, A.; Carvalho, A.; Teixeira-Castro, A.; Almeida, C.; Tomé, R.; Sequeiros, J.; Macedo-Ribeiro, S.; Maciel, P.. "Ataxin-3 and NEDD8: identification and characterization of a new interaction". Paper presented in Sociedade Portuguesa de Bioquímica, 2006.
  211. Silva-Fernandes, A.; Costa, MC.; Maciel, P.. "Somatic and intergenerational instability of expanded CAG repeat in a transgenic mouse model of Machado-Joseph disease". Paper presented in FENS, 2006.
  212. Santos, M.; Coutinho, AM.; Yan, J.; Yang, C.; Feng, J.; Vicente, A.; Temudo, T.; Sommer, S.; Maciel, P.. "Analysis of the 3’ UTR of the MECP2 gene in patients with clinical diagnosis of Rett syndrome and mental retardation". Paper presented in American Society of Human Genetics, 2006.
  213. Santos, M.; Venâncio, M.; Barbot, C.; Medeira, A.; Cabral, H.; Cabral, P.; Carrilho, I.; et al. "Genetic study of boys with a Rett syndrome-like phenotype: analysis of the MECP2, NLGN3 and NLGN4 genes". Paper presented in Rett Syndrome Research Foundation meeting, 2006.
  214. Silva-Fernandes, A.; Costa, MC.; Franco-Duarte, R.; Oliveira, P.; Maciel, P.. "CAG repeat instability and motor deficit in a transgenic mouse model of Machado-Joseph disease". Paper presented in American Society of Human Genetics, 2006.
  215. Rodrigues, AJ.; Coppola, G.; Santos, C.; Costa, MC.; Aillion, M.; Sequeiros, J.; Geschwind, DH.; Maciel, P.. "Absence of ataxin-3 causes transcriptomic de-regulation of the ubiquitin-proteasome pathway, signal transduction, transcription regulation, and cell-structure/motility genes in C.elegans". Paper presented in American Society of Human Genetics, 2006.
  216. Ferro, A.; Carvalho, A.; Teixeira-Castro, A.; Almeida, C.; Tome, R.; Sequeiros, J.; Macedo-Ribeiro, S.; Maciel, P.. "The Machado-Joseph disease protein ataxin-3 interacts with NEDD8". Paper presented in American Society of Human Genetics, 2006.
  217. Teixeira-Castro, A.; Maciel, P.; Morimoto, RI.. "Pathological ataxin-3 misfolding in C. elegans". Paper presented in The 11th Annual Midwest stress response and chaperone conference, 2006.
  218. Teixeira-Castro, A.; Maciel, P.; Morimoto, RI.. "Pathological ataxin-3 misfolding in C. elegans neurons". Paper presented in C. elegans Neuroscience Meeting, 2006.
  219. Costa, MC.; Silva-Fernandes, A.; Maciel, P.. "Motor coordination impairment in a transgenic mouse model of Machado-Joseph disease". Paper presented in FENS, 2006.
  220. Costa, MC.; Rodrigues, AJ.; Maciel, P.. "Characterization of the ubiquitin hydrolase activity of mouse ataxin-3 and of its subcellular localization in skeletal muscle". Paper presented in Annual meeting of the American Society of Human Genetics, 2006.
  221. Carvalho, A.; Pitzurra, L.; Aloisi, T.; Carroti, A.; Maciel, P.; Aversa, F.; Romani, L.; Rodrigues, F.. "Polymorphisms of the toll-like receptors and susceptibility to fungal infections in haploidentical haematopoietic transplantation". Paper presented in 1st Mediterranean Workshop on Clinical Immunology, 2006.
  222. Santos, M.; Tavares, H.; Sousa, N.; Maciel, P.. "Increased cell proliferation in the hippocampus of Mecp2-null mice". Paper presented in Reunião da Sociedade Portuguesa de Microscopia, 2006.
  223. Teixeira-Castro, A.; Maciel, P.; Morimoto, RI.. "In vivo imaging of ataxin-3 aggregation dynamics in C. elegans neurons". Paper presented in Reunião da Sociedade Portuguesa de Microscopia, 2006.
  224. Santos, M; Venâncio, Margarida; Barbot, Clara; Medeira, Ana; Cabral, Helena; Cabral, P.; Carrilho, Isabel; et al. "Genetic study of boys with a Rett syndrome-like phenotype: analysis of the MECP2, NLGN3 and NLGN4 genes". Paper presented in 9th Annual Meeting of the Portuguese Society of Human Genetics, 2005.
  225. Lima, M.; Costa, MC.; Montiel, R.; Ferro, A.; Santos, C.; Silva, C.; Bettencourt, C.; et al. "Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease (MJD) Gene in Portugal". Paper presented in VIII Portugaliae Genetica: One Evolution, Four Modes of Inheritance, 2005.
  226. Laço, M.; Maciel, P.; Oliveira, CR.; Paulson, HR.; Rego, AC.. "Expression of expanded ataxin-3 sensitizes cells to NP-3 inhibition". Paper presented in FENS Summer School – Neuron-glia interaction in aging and disease, 2005.
  227. Costa, MC.; Gomes-da-Silva, J.; Miranda, CJ.; Sequeiros, J.; Santos, MM.; Maciel, P.. "Study of the mouse homologue of the Machado–Joseph disease (MJD) gene". Paper presented in FENS/HERTIE WINTER SCHOOL: "Neurodegenerative Aggregation Disorders: From Genes to Protein Aggregation, Neuronal Dysfunction and Experimental Treatments", 2005.
  228. Carvalho, AL.; Cortes, L.; Maciel, P.. "Nucleocytoplasmic shuttling of ataxin-3". Paper presented in Society for Neuroscience, 2005.
  229. Silva-Fernandes, A.; Costa, MC.; Ferreira, T.; Maciel, P.. "Somatic and intergenerational instability of expanded CAG repeat in a transgenic mouse model of Machado-Joseph disease". Paper presented in 9ª Reunião da Sociedade Portuguesa de Genética Humana, 2005.
  230. Teixeira-Castro, A.; Sousa, JC.; Costa, MJ.; Pinto-do-Ó, P.; Maciel, P.. "Using Caenorhabditis elegans as a model for learning the biochemical basis of axon guidance". Paper presented in XV International C. elegans Meeting, 2005.
  231. Temudo, Teresa; Santos, M; Dias, Karen; Barbot, Clara; Cabral, P.; Moreira, Ana; Carrilho, Isabel; et al. "Genotype-phenotype correlations in portuguese patients with Rett syndrome". Paper presented in 54th Annual Meeting of The American Society of Human Genetics, 2004.
  232. Santos, M; Temudo, Teresa; Barbot, Clara; Medeira, Ana; Cabral, Helena; Cabral, P.; Carrilho, Isabel; et al. "Male patients with Rett-like phenotype do not present mutations in the MECP2, NLGN3 and NLGN4 genes". Paper presented in 54th Annual Meeting of The American Society of Human Genetics, 2004.
  233. Santos, M.; Temudo, T.; Barbot, C.; Medeira, A.; Cabral, H.; Cabral, P.; Carrilho, I.; et al. "Male patients with Rett syndrome-like phenotype do not present mutations in the MECP2, NLGN3 and NLGN4 genes". Paper presented in The American Society of Human Genetics, 2004.
  234. Temudo, T.; Santos, M.; Dias, K.; Barbot, C.; Cabral, P.; Moreira, A.; Cabral, I.; et al. "Genotype-phenotype correlations in Portuguese patients with Rett syndrome". Paper presented in The American Society of Human Genetics, 2004.
  235. Melo, C.; Gales, L.; Pires, E.; Maciel, P.; Damas, AM.; Macedo-Ribeiro, S.. "Amyloid-like properties of non-expanded (14Q) human ataxin-3 oligomers". Paper presented in FENS Forum, 2004.
  236. Costa, MC.; Magalhães, P.; Cerqueira, J.; Matamá, MT.; Sequeiros, J.; Maciel, P.. "Exclusion of repeat expansions on the HDL1, HDL2, TBP, DRPLA, CBP and POU3F2 genes in 111 Huntington disease-like patients of portuguese origin". Paper presented in FENS Forum, 2004.
  237. Ferro, A.; Ribeiro-Carvalho, A.; Teixeira-Castro, A.; Sequeiros, J.; Maciel, P.. "Self-interaction of ataxin-3, the protein that aggregates in Machado-Joseph disease". Paper presented in FENS Forum, 2004.
  238. Maciel, P.; Iniesta, I.; Constante-Pereira, M.; Cruz, V.; Costa, MC.; Sousa, N.; Sequeiros, J.; Coutinho, P.; Santos, MM.. "Iron metabolism and neurodegeneration: missense mutation in the ferritin light polypeptide gene (FTL) associated with early-onset bilateral pallidal degeneration". Paper presented in FENS Forum, 2004.
  239. Costa, C.; Costa, MC.; Sequeiros, J,; Maciel, P.. "A nonsense mutation in the thyroid transcription factor-1 (TITF-1) in two patients with benign hereditary chorea". Paper presented in FENS Forum, 2004.
  240. Laço, M.; Maciel, P.; Oliveira, CR.; Rego, AC.. "Increased susceptibility to 3-nitropropionic acid in HEK cells expressing mutant ataxin-3". Paper presented in FEBS-sponsored Course on “New molecular strategies to treat neurodegenerative diseases”, 2004.
  241. Castro, M.; Lemos, C.; Barros, J.; Fraga, C.; Guimarães, L.; Maciel, P.; Sousa, A.; et al. "A mutation in the ATP1A2 gene in a large family with migraine without aura". Paper presented in The American Society of Human Genetics, 2004.
  242. Coutinho, AM.; Oliveira, G.; Katz, C.; Feng, J.; Yan, J.; Yang, C.; Marques, C.; et al. "MECP2 variation in Portuguese autistic patients". Paper presented in The American Society of Human Genetics, 2004.
  243. Teixeira-Castro, A.; Costa, MC.; Constante-Pereira, M.; Sequeiros, J.; Santos, MM.; Maciel, P.. "Study of the Ferritin light Polypeptide (FTL) gene, including the cis-acting Iron-Responsive Element (IRE), in Portuguese patients with Huntington-like symptoms". Paper presented in The American Society of Human Genetics, 2004.
  244. Coutinho, AM.; Oliveira, G.; Katz, C.; Feng, J.; Yan, J.; Yang, C.; Marques, C.; et al. "Variação do gene MECP2 numa população portuguesa de pacientes autistas". Paper presented in 8ª Reunião da Sociedade Portuguesa de Genética Humana, 2004.
  245. Tavares, MAF.; Sousa, N.; Almeida, A.; Palha, J.; Correia-Pinto, J.; Maciel, P.; Pinto-Machado, J.. ". An integrated system-based approach of learning objectives in the medical degree course of the University of Minho: “Organic and Functional Systems”". Paper presented in Meeting of the Association for Medical Education in Europe, 2004.
  246. Ferro, A.; Castro, MJ.; Sousa, A.; Lemos, C.; Santos, M.; Silveira, I.; Pereira-Monteiro, J.; Sequeiros, J.; Maciel, P.. "A case-control study reveals no association of the C677T MTHFR polymorphism with migraine in the Portuguese population.". Paper presented in Comparative and Functional Genomics workshop, 2003.
  247. Ferro, A.; Castro, MJ.; Sousa, A.; Lemos, C.; Santos, M.; Silveira, I.; Pereira-Monteiro, J.; Sequeiros, J.; Maciel, P.. "The C677T MTHFR polymorphism is not a genetic risk factor for migraine in the Portuguese population". Paper presented in Genetics of complex traits and isolated populations, 2003.
  248. Pinto-Basto, J.; Santos, M.; Rio, ME.; Sá, MJ.; Valença, A.; Sá, A.; Dinis, J.; et al. "Rastreio do genoma e identificação de loci associados à esclerose múltipla em doentes Portugueses". Paper presented in Sociedade Portuguesa de Neurologia, 2002.
  249. Santos, M.; Costa, MC.; Rio, ME.; Sá, MJ.; Monteiro, M.; Valença, A.; Sá, A.; et al. "Susceptibilidade e progressão da esclerose múltipla em doentes Portugueses – estudo do papel dos loci APOE e SCA2". Paper presented in Sociedade Portuguesa de Neurologia, 2002.
  250. Costa, MC.; Miranda, C.; Tessaro, M.; Sequeiros, J.; Santos, MM.; Maciel, P.. "Genomic structure, promoter activity and developmental expression of the mouse homologue of the Machado-Joseph disease gene". Paper presented in The American Society of Human Genetics, 52nd Annual Meeting, 2002.
  251. Santos, M; Costa, Maria do Carmo; Rio, Maria Edite; Sá, Maria José; Monteiro, M.C.; Valença, A.; Sá, André; et al. "Susceptibility and disease progression in Portuguese patients with multiple sclerosis: study of the role of APOE and SCA2 loci". Paper presented in European Congress of Human Genetics, 2002.
  252. Santos, M.; Costa, MC.; Rio, ME.; Sá, MJ.; Monteiro, MC.; Valença, A.; Sá, A.; et al. "Susceptibility and disease progression in Portuguese patients with multiple sclerosis - study of the role of APOE and SCA2 loci". Paper presented in European Society of Human Genetics, 2002.
  253. Costa, MC.; Guimarães, L.; Ferreirinha, F.; Sousa, A.; Maciel, P.; Sequeiros, J.. "Study of the normal CAG tract at the Huntington disease locus in the Portuguese population". Paper presented in Study of the normal CAG tract at the Huntington disease locus in the Portuguese population, 2002.
  254. Santos, M; Costa, Maria do Carmo; Rio, Maria Edite; Sá, Maria José; Monteiro, M.C.; Valença, A.; Sá, André; et al. "Study of the APOE and SCA2 loci in multiple sclerosis patients of Portuguese origin". Paper presented in 54th Annual Meeting of the American Academy of Neurology, 2002.
  255. Santos, M.; Costa, MC.; Matamá, MT.; Ferro, A.; Pinto-Basto, J.; Sequeiros, J.; Maciel, P.. "Candidate gene studies in Portuguese patients". Paper presented in G.A.M.E.S. Meeting, 2002.
  256. Santos, M.; Costa, MC.; Rio, ME.; Sá, MJ.; Monteiro, MC.; Valença, A.; Sá, A.; et al. "Study of the APOE and SCA2 loci in multiple sclerosis patients of Portuguese origin". Paper presented in American Academy of Neurology 54th Annual Meeting, 2002.
  257. Costa, MC.; Guimarães, L.; Ferreirinha, F.; Sousa, A.; Maciel, P.; Sequeiros, J.. "High frequency of intermediate alleles in the Huntington’s disease locus in a large Portuguese control population". Paper presented in European Science Foundation, 2001.
  258. Temudo, T.; Dias, K.; Barbot, C.; Oliveira, G.; Santos, M.; Sequeiros, J.; Maciel, P.. "Estudo Clínico, Epidemiológico e Genético da Síndrome de Rett em Portugal". Paper presented in Sociedade Portuguesa de Neurologia, 2001.
  259. Costa, Maria do Carmo; Santos, Cláudia; Ferro, Anabela; Santos, M; Sequeiros, Jorge; Maciel, Patrícia. "Identification of 3 new intragenic polymorphisms in the MJD1 gene and study of its frequency in the portuguese population". Paper presented in 5th Annual Meeting of the Portuguese Society of Human Genetics, 2001.
  260. Costa, Maria do Carmo; Santos, Cláudia; Ferro, Anabela; Santos, M; Sequeiros, Jorge; Maciel, Patrícia. "Identification of three novel polymorphisms in the MJD1 gene and their frequency study in a Portuguese population". Paper presented in 51st Annual Meeting of The American Society of Human Genetics, 2001.
  261. Costa, MC.; Santos, C.; Ferro, A.; Santos, M.; Sequeiros, J.; Maciel, P.. "Identification of three novel polymorphisms in the MJD1 gene and their frequency study in a Portuguese population". Paper presented in 51st Annual Meeting of the American Society of Human Genetics, 2001.
  262. Costa, MC.; Santos, C.; Ferro, A.; Santos, M.; Sequeiros, J.; Maciel, P.. "Identificação de três novos polimorfismos intragénicos no gene MJD1 e estudo da sua frequência numa população Portuguesa". Paper presented in 5ª reunião da Sociedade Portuguesa de Genética Humana,, 2001.
  263. Costa, MC.; Basto, JP.; Ferreirinha, F.; Matamá, MT.; Mendonça, P.; Vale, J.; Januário, C.; et al. "Huntington´s disease in Portugal: molecular diagnosis, genetic counselling and investigation on genetic heterogeneity". Paper presented in 11th European Neurological Society Meeting, 2001.
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  264. Costa, MC.; Santos, C.; Ferro, A.; Sequeiros, J.; Maciel, P.. "Improvement of the method for molecular diagnosis of Machado-Joseph disease". Paper presented in 50th Annual Meeting of the American Society of Human Genetics, 2000.
  265. Ferro, A.; Pinto-Basto, J.; Barreirinho, S.; Santos, M.; Barbot, C.; Costa, E.; Sousa, A.; Barbot, J.; Maciel, P.. "Genetic risk factors in pediatric ischemic stroke – a retrospective study". Paper presented in 50th Annual Meeting of the American Society of Human Genetics, 2000.
  266. Ferro, A.; Pinto-Basto, J.; Barreirinho, MS.; Santos, M.; Barbot, C.; Costa, E.; Sousa, A.; et al. "de Risco Genético para o Acidente Vascular Cerebral pediátrico – estudo retrospectivo". Paper presented in de Risco Genético para o Acidente Vascular Cerebral pediátrico – estudo retrospectivo, 2000.
  267. Costa, MC.; Santos, C.; Ferro, A.; Sequeiros, J.; Maciel, P.. "Aperfeiçoamento do método de diagnóstico molecular da Doença de Machado-Joseph". Paper presented in 4ª Reunião da Sociedade Portuguesa de Genética Humana, 2000.
  268. Costa, MC.; Santos, C.; Ferro, A.; Sequeiros, J.; Maciel, P.. "Identification of a new intragenic polymorphism (C1178/A1178) in the MJD1 gene and its study in a Portuguese population: application to predictive and diagnostic testing in Machado-Joseph disease". Paper presented in 32th European Society of Human Genetics Meeting, 2000.
  269. Maciel, P.; Costa, MC.; Ferro, A.; Santos, C.; Sequeiros, S.. "Absence of intermediate alleles and high frequency of homoallelism at the MJD1 (Machado-Joseph) locus in a large control sample from the Portuguese population". Paper presented in 32th European Society of Human Genetics meeting, 2000.
Journal article
  1. Duarte-Silva, S; DA SILVA, JORGE D.; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; et al. "Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3". The Journal of Clinical Investigation (2024):
    Accepted • 10.1172/JCI162246
  2. Chatterjee, Arpita; Saha, Saikat; Chakraborty, Anirban; Silva-Fernandes, Anabela; Mandal, Santi M.; Neves-Carvalho, Andreia; Liu, Yongping; et al. "Correction: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis". PLOS Genetics 20 1 (2024): e1011124. http://dx.doi.org/10.1371/journal.pgen.1011124.
    Published • 10.1371/journal.pgen.1011124
  3. Almeida, Filipa; Ferreira, Ildete L.; Naia, Luana; Marinho, Daniela; Vilaça-Ferreira, Ana Catarina; Costa, Marta D.; Duarte-Silva, Sara; Maciel, Patrícia; Rego, A. Cristina. "Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease". Cells 12 19 (2023): 2397. http://dx.doi.org/10.3390/cells12192397.
    10.3390/cells12192397
  4. Figueiredo, Francisco; Sárkány, Zsuzsa; Silva, Alexandra; Vilasboas-Campos, Daniela; Maciel, Patrícia; Teixeira-Castro, Andreia; Martins, Pedro M.; Macedo-Ribeiro, Sandra. "Drug repurposing of dopaminergic drugs to inhibit ataxin-3 aggregation". Biomedicine & Pharmacotherapy 165 (2023): 115258. http://dx.doi.org/10.1016/j.biopha.2023.115258.
    Published • 10.1016/j.biopha.2023.115258
  5. Cunha-Garcia, Daniela; Monteiro-Fernandes, Daniela; Correia, Joana Sofia; Neves-Carvalho, Andreia; Vilaça-Ferreira, Ana Catarina; Guerra-Gomes, Sónia; Viana, João Filipe; et al. "Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IP3R2) Fails to Modify Disease Progression in a Mouse Model of Spinocerebellar Ataxia Type 3". International Journal of Molecular Sciences 24 13 (2023): 10606. http://dx.doi.org/10.3390/ijms241310606.
    Published • 10.3390/ijms241310606
  6. Teixeira-Castro, Andreia; Sousa, João Carlos; Vieira, Cármen; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Marques, Fernanda; Pinto-do-Ó, Perpétua; Maciel, Patrícia. "Learning the Biochemical Basis of Axonal Guidance: Using Caenorhabditis elegans as a Model". Biomedicines 11 6 (2023): 1731. http://dx.doi.org/10.3390/biomedicines11061731.
    Published • 10.3390/biomedicines11061731
  7. Guerreiro, Sara; Maciel, Patrícia. "Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges". Cells 12 4 (2023): 538. http://dx.doi.org/10.3390/cells12040538.
    Published • 10.3390/cells12040538
  8. Correia, Joana Sofia; Duarte-Silva, Sara; Salgado, António José; Maciel, Patrícia. "Cell-based therapeutic strategies for treatment of spinocerebellar ataxias: an update". Neural Regeneration Research 18 6 (2023): 1203. http://dx.doi.org/10.4103/1673-5374.355981.
    Published • 10.4103/1673-5374.355981
  9. Fu, Jack M.; Satterstrom, F. Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L.; Dong, Shan; Wamsley, Brie; et al. "Rare coding variation provides insight into the genetic architecture and phenotypic context of autism". Nature Genetics 54 9 (2022): 1320-1331. http://dx.doi.org/10.1038/s41588-022-01104-0.
    Published • 10.1038/s41588-022-01104-0
  10. Mayoral-Palarz, Kristin; Neves-Carvalho, Andreia; Duarte-Silva, Sara; Monteiro-Fernandes, Daniela; Maciel, Patrícia; Khodakhah, Kamran. "Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3". Disease Models & Mechanisms 15 8 (2022): http://dx.doi.org/10.1242/dmm.049514.
    Published • 10.1242/dmm.049514
  11. Blaikie, Laura; Kay, Graeme; Maciel, Patrícia; Kong Thoo Lin, Paul. "Experimental modelling of Alzheimer's disease for therapeutic screening". European Journal of Medicinal Chemistry Reports 5 (2022): 100044. http://dx.doi.org/10.1016/j.ejmcr.2022.100044.
    Published • 10.1016/j.ejmcr.2022.100044
  12. Campos, Ana Bela; Duarte-Silva, Sara; Fernandes, Bruno; Coimbra, Bárbara; Campos, Jonas; Monteiro-Fernandes, Daniela; Teixeira-Castro, Andreia; Ambrósio, António Francisco; Maciel, Patrícia. "Microglial Depletion Has No Impact on Disease Progression in a Mouse Model of Machado-Joseph Disease". Cells 11 13 (2022): 2022. http://dx.doi.org/10.3390/cells11132022.
    Published • 10.3390/cells11132022
  13. Jalles, Ana; Vieira, Cármen; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Mota, Ana Francisca; Vasconcelos, Sara; Ferreira-Lomba, Bruna; et al. "Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans". Biomedicines 10 2 (2022): 370. http://dx.doi.org/10.3390/biomedicines10020370.
    10.3390/biomedicines10020370
  14. Campos, Ana Bela; Duarte-Silva, Sara; Fernandes, Bruno; das Neves, Sofia Pereira; Marques, Fernanda; Teixeira-Castro, Andreia; Neves-Carvalho, Andreia; et al. "Profiling Microglia in a Mouse Model of Machado-Joseph Disease". Biomedicines 10 2 (2022): 237. http://dx.doi.org/10.3390/biomedicines10020237.
    Open access • 10.3390/biomedicines10020237
  15. Raposo, Mafalda; Bettencourt, Conceição; Melo, Ana Rosa Vieira; Ferreira, Ana F.; Alonso, Isabel; Silva, Paulo; Vasconcelos, João; et al. "Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing". Neurobiology of Disease 162 (2022): 105578. http://dx.doi.org/10.1016/j.nbd.2021.105578.
    Published • 10.1016/j.nbd.2021.105578
  16. Costa, Marta Daniela; Maciel, Patrícia. Corresponding author: Maciel, Patrícia. "Modifier pathways in Polyglutamine (PolyQ) diseases: from genetic screens to drug targets". Cellular and Molecular Life Sciences (2022):
    In press
  17. Fu, Jack M.; Satterstrom, F. Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L.; Dong, Shan; Klei, Lambertus; et al. "Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism". Nature Genetics (2022):
    In press
  18. Correia, Joana Sofia; Neves-Carvalho, Andreia; Mendes-Pinheiro, Bárbara; Pires, Joel; Teixeira, Fábio Gabriel; Lima, Rui; Monteiro, Susana; et al. "Preclinical Assessment of Mesenchymal-Stem-Cell-Based Therapies in Spinocerebellar Ataxia Type 3". Biomedicines 9 12 (2021): 1754. http://dx.doi.org/10.3390/biomedicines9121754.
    Published • 10.3390/biomedicines9121754
  19. Da Silva, Jorge Diogo; Costa, Marta Daniela; Almeida, Bruno; Lopes, Fátima; Maciel, Patrícia; Teixeira-Castro, Andreia. "Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders". Frontiers in Neurology 12 (2021): http://dx.doi.org/10.3389/fneur.2021.735549.
    10.3389/fneur.2021.735549
  20. Mendes, Mariana Oliveira; Rosa, Alexandra Isabel; Carvalho, Andreia Neves; Nunes, Maria João; Dionísio, Pedro; Rodrigues, Elsa; Costa, Daniela; et al. "Corrigendum to "Neurotoxic effects of MPTP on mouse cerebral cortex: Modulation of neuroinflammation as a neuroprotective strategy" [Mol. Cell. Neurosci., Volume 96, April 2019, Pages 1-9.]". Molecular and Cellular Neuroscience (2021): 103626. http://dx.doi.org/10.1016/j.mcn.2021.103626.
    10.1016/j.mcn.2021.103626
  21. Pereira-Sousa, J.; Ferreira-Lomba, B.; Bellver-Sanchis, A.; Vilasboas-Campos, D.; Fernandes, Jorge H.; Costa, MD.; Varney, MA.; et al. "Identification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease". Neurobiology of Disease 152 (2021): 105278. http://dx.doi.org/10.1016/j.nbd.2021.105278.
    Published • 10.1016/j.nbd.2021.105278
  22. Teixeira, V.; Maciel, P.; Costa, V.. "Leading the way in the nervous system: Lipid Droplets as new players in health and disease". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1866 1 (2021): 158820. http://dx.doi.org/10.1016/j.bbalip.2020.158820.
    Published • 10.1016/j.bbalip.2020.158820
  23. Vilasboas-Campos, D.; Costa, MD.; Teixeira-Castro, A.; Rios, R.; Silva, FG.; Bessa, C.; Dias, A.C.P.; MacIel, P.. "Neurotherapeutic effect of Hyptis spp. leaf extracts in Caenorhabditis elegans models of tauopathy and polyglutamine disease: Role of the glutathione redox cycle". Free Radical Biology and Medicine 162 (2021): 202-215. http://dx.doi.org/10.1016/j.freeradbiomed.2020.10.018.
    Published • 10.1016/j.freeradbiomed.2020.10.018
  24. Pohl, Franziska; Goua, Marie; Yates, Kyari; Bermano, Giovanna; Russell, Wendy R.; Maciel, Patrícia; Kong Thoo Lin, Paul. "Impact of rapeseed pomace extract on markers of oxidative stress and DNA damage in human SH-SY5Y cells". Journal of Food Biochemistry 45 2 (2020): http://dx.doi.org/10.1111/jfbc.13592.
    Published • 10.1111/jfbc.13592
  25. Vilasboas-Campos, D.; Costa, MD.; Teixeira-Castro, A.; Rios, R.; Silva, FG.; Aierken, A.; Zhang, X.; et al. "Data on the effects of Hyptis spp. and Lycium spp. plant extracts in C. elegans models of genetically determined neurodegenerative diseases". Data in Brief 33 (2020): 106598. http://dx.doi.org/10.1016/j.dib.2020.106598.
    Published • 10.1016/j.dib.2020.106598
  26. Neves-Carvalho, A.; Duarte-Silva, S.; Teixeira-Castro, A.; Maciel, P.. "Polyglutamine spinocerebellar ataxias: emerging therapeutic targets". Expert Opinion on Therapeutic Targets 24 11 (2020): 1099-1119. http://dx.doi.org/10.1080/14728222.2020.1827394.
    Published • 10.1080/14728222.2020.1827394
  27. Costa, Maria do Carmo; Radzwion, Maria; McLoughlin, Hayley S.; Ashraf, Naila S.; Fischer, Svetlana; Shakkottai, Vikram G.; Maciel, Patrícia; Paulson, Henry L.; Öz, Gülin. "In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3". Movement Disorders 35 10 (2020): 1774-1786. http://dx.doi.org/10.1002/mds.28140.
    10.1002/mds.28140
  28. Oliveira-Pinto, S.; Pontes, O.; Lopes, D.; Sampaio-Marques, B.; Costa, MD.; Carvalho, L.; Gonçalves, CS.; et al. "Unravelling the anticancer potential of functionalized chromeno[2,3-b]pyridines for breast cancer treatment". Bioorganic Chemistry 100 (2020): 103942. http://dx.doi.org/10.1016/j.bioorg.2020.103942.
    Published • 10.1016/j.bioorg.2020.103942
  29. Seabra, CM.; Aneichyk, T.; Erdin, S.; Tai, D. J. C.; De Esch, C. E. F.; Razaz, P.; An, Y.; et al. "Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons". Molecular Autism 11 1 (2020): http://dx.doi.org/10.1186/s13229-020-00354-1.
    10.1186/s13229-020-00354-1
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    Published • 10.1111/ejn.14724
  31. Da Silva, JD.; Oliveira, S.; Pereira-Sousa, J.; Teixeira-Castro, A.; Costa, MD.; Maciel, P.. "Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration". Molecular Neurobiology 57 3 (2020): 1553-1569. https://doi.org/10.1007/s12035-019-01833-0.
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    10.1073/pnas.1918215117
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    Published • 10.1016/j.cell.2019.12.036
  34. Chakraborty, A.; Tapryal, N.; Venkova, T.; Mitra, J.; Vasquez, V.; Sarker, A.H.; Duarte-Silva, S.; et al. "Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis". Proceedings of the National Academy of Sciences of the United States of America 117 14 (2020): 8154-8165. http://www.scopus.com/inward/record.url?eid=2-s2.0-85083089024&partnerID=MN8TOARS.
    Accepted • 10.1073/pnas.1917280117
  35. Pohl, F.; Teixeira-Castro, A.; Costa, MD.; Lindsay, V.; Fiúza-Fernandes, J.; Goua, M.; Bermano, G.; et al. "GST-4-Dependent Suppression of Neurodegeneration in C. elegans Models of Parkinson's and Machado-Joseph Disease by Rapeseed Pomace Extract Supplementation". Frontiers in Neuroscience 13 (2019): http://dx.doi.org/10.3389/fnins.2019.01091.
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    Published
  47. Lopes, F.; Torres, F.; Lynch, S.; Jorge, A.; Sousa, S.; Silva, J.; Rendeiro, P.; et al. "The contribution of 7q33 copy number variations for intellectual disability". neurogenetics 19 1 (2017): 27-40. http://dx.doi.org/10.1007/s10048-017-0533-5.
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  110. Mesquita, A.R.; Pêgo, J.M.; Summavielle, T.; Maciel, P.; Almeida, O.F.X.; Sousa, N.. "Neurodevelopment milestone abnormalities in rats exposed to stress in early life". Neuroscience 147 4 (2007): 1022-1033. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547102233&partnerID=MN8TOARS.
    10.1016/j.neuroscience.2007.04.007
  111. Ferro, A.; Carvalho, A.L.; Teixeira-Castro, A.; Almeida, C.; Tomé, R.J.; Cortes, L.; Rodrigues, A.-J.; et al. "NEDD8: A new ataxin-3 interactor". Biochimica et Biophysica Acta - Molecular Cell Research 1773 11 (2007): 1619-1627. http://www.scopus.com/inward/record.url?eid=2-s2.0-35548938484&partnerID=MN8TOARS.
    10.1016/j.bbamcr.2007.07.012
  112. Games Collaborative Group; Ban M; Booth D; Heard R; Stewart G; Goris A; Vandenbroeck K; et al. "Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans.". Journal of Neuroimmunology 179 12 (2006): 108-116. http://europepmc.org/abstract/med/16934875.
    10.1016/j.jneuroim.2006.06.003
  113. Burwick, R.M.; Ramsay, P.P.; Haines, J.L.; Hauser, S.L.; Oksenberg, J.R.; Pericak-Vance, M.A.; Schmidt, S.; et al. "APOE epsilon variation in multiple sclerosis susceptibility and disease severity: Some answers". Neurology 66 9 (2006): 1373-1383. http://www.scopus.com/inward/record.url?eid=2-s2.0-33646712168&partnerID=MN8TOARS.
    10.1212/01.wnl.0000210531.19498.3f
  114. Costa, M.D.C.; Magalhães, P.; Guimarães, L.; Maciel, P.; Sequeiros, J.; Sousa, A.. "The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation". Journal of Human Genetics 51 3 (2006): 189-195. http://www.scopus.com/inward/record.url?eid=2-s2.0-33645229779&partnerID=MN8TOARS.
    10.1007/s10038-005-0343-8
  115. Costa, M.D.C.; Teixeira-Castro, A.; Constante, M.; Magalhães, M.; Magalhães, P.; Cerqueira, J.; Vale, J.; et al. "Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype". Journal of Human Genetics 51 8 (2006): 645-651. http://www.scopus.com/inward/record.url?eid=2-s2.0-77952878970&partnerID=MN8TOARS.
    10.1007/s10038-006-0001-9
  116. Santos, M.; Coelho, P.A.; Maciel, P.. "Chromatin remodeling and neuronal function: Exciting links". Genes, Brain and Behavior 5 SUPPL. 2 (2006): 80-91. http://www.scopus.com/inward/record.url?eid=2-s2.0-33646228863&partnerID=MN8TOARS.
    10.1111/j.1601-183X.2006.00227.x
  117. Shi, J.; Shibayama, A.; Liu, Q.; Nguyen, VQ.; Feng, J.; Temudo, T.; MacIel, P.; Sommer, SS.. "Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).". 25 5 (2005): http://europepmc.org/abstract/med/15841480.
    10.1002/humu.9338
  118. Do Carmo Costa, M.; Costa, C.; Silva, A.P.; Evangelista, P.; Santos, L.; Ferro, A.; Sequeiros, J.; Maciel, P.. "Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea". Neurogenetics 6 4 (2005): 209-215. http://www.scopus.com/inward/record.url?eid=2-s2.0-28344435213&partnerID=MN8TOARS.
    10.1007/s10048-005-0013-1
  119. Lima, M.; Costa, M.C.; Montiel, R.; Ferro, A.; Santos, C.; Silva, C.; Bettencourt, C.; et al. "Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal". Human Heredity 60 3 (2005): 156-163. http://www.scopus.com/inward/record.url?eid=2-s2.0-31144472852&partnerID=MN8TOARS.
    10.1159/000090035
  120. Maciel, P.; Cruz, V.T.; Constante, M.; Iniesta, I.; Costa, M.C.; Gallati, S.; Sousa, N.; et al. "Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement". Neurology 65 4 (2005): 603-605. http://www.scopus.com/inward/record.url?eid=2-s2.0-23844553465&partnerID=MN8TOARS.
    10.1212/01.wnl.0000178224.81169.c2
  121. Gales, L.; Cortes, L.; Almeida, C.; Melo, C.V.; Costa, M.D.C.; Maciel, P.; Clarke, D.T.; Damas, A.M.; Macedo-Ribeiro, S.. "Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3". Journal of Molecular Biology 353 3 (2005): 642-654. http://www.scopus.com/inward/record.url?eid=2-s2.0-26244434741&partnerID=MN8TOARS.
    10.1016/j.jmb.2005.08.061
  122. Pinho, T.; Tavares, P.; Maciel, P.; Pollmann, C.. "Developmental absence of maxillary lateral incisors in the Portuguese population". European Journal of Orthodontics 27 5 (2005): 443-449. http://www.scopus.com/inward/record.url?eid=2-s2.0-26644461451&partnerID=MN8TOARS.
    10.1093/ejo/cji060
  123. Shi, J.; Shibayama, A.; Liu, Q.; Nguyen, VQ.; Feng, J.; Temudo, T.; Maciel, P.; Sommer, SS.. "Low Frequency of Heterozygous Deletion and Duplication in the MECP2 gene in Portuguese Patients with Rett Syndrome". Human Mutation 25 5 (2005): 505.
  124. Costa, MC.; Gomes-da-Silva, J.; Miranda, CJ.; Sequeiros, J.; Santos, MM.; Maciel, P.. "Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.". Genomics 84 (2004): 361-373. http://europepmc.org/abstract/med/15233999.
    10.1016/j.ygeno.2004.02.012
  125. Santos, M.; do Carmo Costa, M.; Edite Rio, M.; José Sá, M.; Monteiro, M.; Valença, A.; Sá, A.; et al. "Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin". Multiple Sclerosis 10 2 (2004): 153-157. http://www.scopus.com/inward/record.url?eid=2-s2.0-16544363161&partnerID=MN8TOARS.
    10.1191/1352458504ms998oa
  126. Maciel, Patrícia. "Genetics of Rett syndrome: unanswered questions". Rev Neurol (2004):
  127. Maciel, P.; Yan, J.; Feng, J.; Accurso, F.; Sommer, S.. "Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles.". BioTechniques 34 3 (2003): 460-462. http://europepmc.org/abstract/med/12661150.
  128. Alizadeh, M.; Babron, M.-C.; Birebent, B.; Matsuda, F.; Quelvennec, E.; Liblau, R.; Cournu-Rebeix, I.; et al. "Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients". Annals of Neurology 54 1 (2003): 119-122. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037785378&partnerID=MN8TOARS.
    10.1002/ana.10617
  129. Santos, M.; Pinto-Basto, J.; Rio, M.E.; Sá, M.J.; Valença, A.; Sá, A.; Dinis, J.; et al. "A whole genome screen for association with multiple sclerosis in Portuguese patients". Journal of Neuroimmunology 143 1-2 (2003): 112-115. http://www.scopus.com/inward/record.url?eid=2-s2.0-10744224179&partnerID=MN8TOARS.
    10.1016/j.jneuroim.2003.08.023
  130. do Carmo Costa, M.; Magalhães, P.; Ferreirinha, F.; Guimarães, L.; Januário, C.; Gaspar, I.; Loureiro, L.; et al. "Molecular diagnosis of Huntington disease in Portugal: Implications for genetic counselling and clinical practice". European Journal of Human Genetics 11 11 (2003): 872-878. http://www.scopus.com/inward/record.url?eid=2-s2.0-10744224655&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5201055
  131. Barreirinho, S.; Ferro, A.; Santos, M.; Costa, E.; Pinto-Basto, J.; Sousa, A.; Sequeiros, J.; et al. "Inherited and acquired risk factors and their combined effects in pediatric stroke". Pediatric Neurology 28 2 (2003): 134-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-0345354675&partnerID=MN8TOARS.
    10.1016/S0887-8994(02)00506-4
  132. Temudo, T.; Maciel, P.. "Rett's syndrome. Clinical features and advances in genetics | Síndrome de Rett. Características clínicas y avances genéticos.". Revista de neurologia 34 Suppl 1 (2002): http://www.scopus.com/inward/record.url?eid=2-s2.0-1542278939&partnerID=MN8TOARS.
  133. Do Carmo Costa, M.; Sequeiros, J.; Maciel, P.. "Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.". Journal of Human Genetics 47 4 (2002): 205-207. http://europepmc.org/abstract/med/12166658.
    10.1007/s100380200025
  134. Ichikawa, Y.; Goto, J.; Hattori, M.; Toyoda, A.; Ishii, K.; Jeong, S.-Y.; Hashida, H.; et al. "The genomic structure and expression of MJD, the Machado-Joseph disease gene". Journal of Human Genetics 46 7 (2001): 413-422. http://www.scopus.com/inward/record.url?eid=2-s2.0-17844379460&partnerID=MN8TOARS.
    10.1007/s100380170060
  135. Gaspar, C.; Lopes-Cendes, I.; Hayes, S.; Goto, J.; Arvidsson, K.; Dias, A.; Silveira, I.; et al. "Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study". American Journal of Human Genetics 68 2 (2001): 523-528. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035125109&partnerID=MN8TOARS.
    10.1086/318184
  136. Maciel, P.; Do Carmo Costa, M.; Ferro, A.; Rousseau, M.; Santos, C.S.; Gaspar, C.; Barros, J.; et al. "Improvement in the molecular diagnosis of Machado-Joseph disease". Archives of Neurology 58 11 (2001): 1821-1827. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034756334&partnerID=MN8TOARS.
    10.1001/archneur.58.11.1821
  137. Silveira, I.; Alonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Fidalgo de Matos, J.M.; et al. "High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles". American Journal of Human Genetics 66 3 (2000): 830-840. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033925737&partnerID=MN8TOARS.
    10.1086/302827
  138. Maciel, P.; Caspar, C.; Guimarães, L.; Goto, J.; Lopes-Cendes, I.; Hayes, S.; Arvidsson, K.; et al. "Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.". European Journal of Human Genetics 7 2 (1999): 147-156. http://europepmc.org/abstract/med/10196697.
    10.1038/sj.ejhg.5200264
  139. Xie, Y.-G.; Rochefort, D.; Brais, B.; Howard, H.; Han, F.-Y.; Gou, L.-P.; MacIel, P.; et al. "Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2- q13". Genomics 52 2 (1998): 201-204. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032168614&partnerID=MN8TOARS.
    10.1006/geno.1998.5421
  140. Silveira, I.; Coutinho, P.; Maciel, P.; Gaspar, C.; Hayes, S.; Dias, A.; Guimarães, J.; et al. "Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese Ataxia families". American Journal of Medical Genetics - Neuropsychiatric Genetics 81 2 (1998): 134-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032574472&partnerID=MN8TOARS.
    10.1002/(SICI)1096-8628(19980328)81:2<134::AID-AJMG3>3.0.CO;2-W
  141. Sequeiros, J.; Maciel, P.; Taborda, F.; Lêdo, S.; Rocha, J.C.; Lopes, A.; Reto, F.; et al. "Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis". Prenatal Diagnosis 18 6 (1998): 611-617. http://www.scopus.com/inward/record.url?eid=2-s2.0-17644449057&partnerID=MN8TOARS.
    10.1002/(SICI)1097-0223(199806)18:6<611::AID-PD289>3.0.CO;2-Y
  142. Goto, J.; Watanabe, M.; Ichikawa, Y.; Yee, S.-B.; Ihara, N.; Endo, K.; Igarashi, S.; et al. "Machado-Joseph disease gene products carrying different carboxyl termini". Neuroscience Research 28 4 (1997): 373-377. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030747914&partnerID=MN8TOARS.
    10.1016/S0168-0102(97)00056-4
  143. Lopes-Cendes, I.; Silveira, I.; Maciel, P.; Gaspar, C.; Radvany, J.; Chitayat, D.; Babul, R.; et al. "Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.". Archives of Neurology 53 11 (1996): 1168-1174. http://europepmc.org/abstract/med/8912491.
    10.1001/archneur.1996.00550110120020
  144. DeStefano, A.L.; Cupples, L.A.; Maciel, P.; Gaspar, C.; Radvany, J.; Dawson, D.M.; Sudarsky, L.; et al. "A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.". American Journal of Human Genetics 59 1 (1996): 119-127. http://europepmc.org/abstract/med/8659514.
  145. Silveira, I.; Lopes-Cendes, I.; Kish, S.; Maciel, P.; Gaspar, C.; Coutinho, P.; Botez, MI.; et al. "Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.". (1996): http://europepmc.org/abstract/med/8559378.
    10.1212/WNL.46.1.214
  146. Lindblad, K.; Lunkes, A.; Maciel, P.; Stevanin, G.; Zander, C.; Klockgether, T.; Ratzlaff, T.; et al. "Mutation detection in Machado-Joseph disease using repeat expansion detection". Molecular Medicine 2 1 (1996): 77-85. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029669181&partnerID=MN8TOARS.
  147. Gaspar, C.; Lopes-Cendes, I.; DeStefano, A.L.; Maciel, P.; Silveira, I.; Coutinho, P.; MacLeod, P.; et al. "Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins". Human Genetics 98 5 (1996): 620-624. http://www.scopus.com/inward/record.url?eid=2-s2.0-10544251065&partnerID=MN8TOARS.
    10.1007/s004390050270
  148. Turecki, G.; Alda, M.; Grof, P.; Grof, E.; Martin, R.; Cavazzoni, P.A.; Duffy, A.; Maciel, P.; Rouleau, G.A.. "No association between chromosome-18 markers and lithium-responsive affective disorders". Psychiatry Research 63 1 (1996): 17-23. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030602651&partnerID=MN8TOARS.
    10.1016/0165-1781(96)02864-8
  149. DeStefano, A.L.; Farrer, L.A.; Maciel, P.; Gaspar, C.; Rouleau, G.; Rouleau, G.A.; Coutinho, P.; Sequeiros, J.. "Gender equality in Machado-Joseph disease.". Nature genetics 11 2 (1995): 118-119. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029391198&partnerID=MN8TOARS.
    10.1038/ng1095-118b
  150. Maciel, P.; Gaspar, C.; DeStefano, A.L.; Silveira, I.; Coutinho, P.; Radvany, J.; Dawson, D.M.; et al. "Correlation between CAG repeat length and clinical features in Machado-Joseph disease". American Journal of Human Genetics 57 1 (1995): 54-61. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029047109&partnerID=MN8TOARS.
  151. Sequeiros, J.; Silveira, I.; Maciel, P.; Coutinho, P.; Manaia, A.; Gaspar, C.; Burlet, P.; et al. "Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds". Genomics 21 3 (1994): 645-648. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028291077&partnerID=MN8TOARS.
    10.1006/geno.1994.1327
Newsletter article
  1. Maciel, Patrícia. ""A odisseia das doenças raras" (Opinion article)", Público (Megafone), 2021, https://www.publico.pt/2021/02/28/p3/noticia/odisseia-doencas-raras-1952302.
Online resource
  1. Da Silva, Jorge D.; Maciel, Patrícia. Review of: A Variant in Genes of the NPY System as Modifier Factor of Machado-Joseph Disease in the Chinese Population. 2022. https://www.qeios.com/read/Z0YH1U.
    doi.org/10.32388/Z0YH1U

Intellectual property

Patent
  1. Maciel, Patrícia; Costa, Marta Sílvia; Baltazar, Fátima; Proença, Fernanda. 2020. "Chromene-based compounds, methods and uses thereof". Portugal.
    Pending
  2. Maciel, Patrícia; Teixeira-Castro, Andreia; Jales, Ana Luísa; Esteves, Sofia; Sousa, Nuno. 2020. "Citalopram or escitalopram, pharmaceutically acceptable salts thereof for use in the treatment of neurodegenerative diseases".
    Granted/Issued

Other

Other output
  1. MorphData: Automating the data extraction process of morphological features of microglial cells in ImageJ. BioRxiv. 2021. Campos, Ana Bela; Duarte-Silva, S; Ambrósio, A.F.; Maciel, Patrícia; Fernandes, Bruno. Corresponding author: Fernandes, Bruno. https://doi.org/10.1101/2021.08.05.455282.
  2. Cerebellar neuronal dysfunction accompanies early motor symptoms in Spinocerebellar Ataxia Type 3 and is partially alleviated upon chronic citalopram treatment. 2021. KJ Palarz; A Neves-Carvalho; S Duarte-Silva; P Maciel; K Khodakhah. https://doi.org/10.1101/2021.04.29.441865.
    10.1101/2021.04.29.441865
  3. Regulation of neuronal mRNA splicing and Tau isoform ratio by ATXN3 through deubiquitylation of splicing factors.. bioRxiv 711424. 2019. Neves-Carvalho, A; Duarte-Silva, S; da Silva, JM; Almeida, B; Heetveld, S; Sotiropoulos, I; Heurink, P; Li, KW; Maciel, Patrícia. Corresponding author: Maciel, Patrícia. https://doi.org/10.1101/711424.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/08 Using C. elegans to model neurological diseases International Society for Neurochemistry Advanced School
(Caminha, Portugal)
2023/06 Ataxin-3: A Deubiquitylase and its Links to Neurodegeneration CAG Triplet Repeat Disorders Gordon Research Conference
(West Dover, VT, United States)
2023/03 The glucocorticoid receptor as a biomarker and neuronal therapeutic target of a disease-improving bile acid in SCA3/MJD Portuguese Society of Movement Disorders (SPDMov) Meeting 2023
Portuguese Society of Movement Disorders (SPDMov) (Mealhada (Luso), Portugal)
2020/02 Machado-Joseph disease: from mechanism to drug discovery and back CEDOC
(Lisboa, Portugal)
2019/09 Molecular aspects of SCA1 and SCA3 Karolinska Institute
(Stockholm, Sweden)
2019/09 Machado-Joseph disease: from mechanism to drug discovery and back
I3S (Porto, Portugal)
2019/06 Neuroprotection and medicinal plants: some case studies 1st Sino-Portuguese International Congress on Traditional Chinese Medicine
(Braga, Portugal)
2018/11 Addressing pathogenesis and developing therapies for spinocerebellar ataxia Neurogenetics Workshop
Universidade Federal do Rio Grande do Sul (Porto Alegre, Brazil)
2018/06 Would whole-exome sequencing change the history of Machado Joseph Disease? European Academy of Neurology Meeting
(Lisboa, Portugal)
2018/03 Models for the study of Rare Diseases/Modelos para estudo das doenças raras Workshop "Challenges of Rare Diseases"/"Desafios das doenças raras"
University of the Azores (Ponta Delgada, Portugal)
2018/03 Drug discovery for neurodegenerative diseases Sichuan Medical University
(Luzhou , China)
2018/03 Novel therapy discovery for neurological disease
Anyang Institute of Technology (Anyang, China)
2018/03 Novel therapy discovery for neurological disease
Northwest A&F University (Luzhou, China)
2017/06 Estudio de estratégias terapéuticas en modelos animales de la Ataxia Espinocerebelosa tipo 3 FEDAES meeting
(Segovia, Spain)
2017/02 Buscando terapias para la Ataxia Espinocerebelosa tipo 3 ACAH meeting
(Barcelona, Spain)
2016/09 Whole organism repurposing drug screening brings forward novel targets for spinocerebellar ataxia type 3 Discovery on Target meeting
(Boston, United States)
2016/06 Drug discovery for Machado-Joseph disease: preclinical studies 1st CEDOC Symposium on chronic diseases
(Lisbon, Portugal)
2016/05 Ataxin-3: a deubiquitylase with links to neurodegeneration 1st Small Meeting on Endocytic Trafficking and signalling
(Braga, Portugal)
2016/03 Drug discovery for Machado-Joseph disease: Low molecular weight drugs Controversies in Neurology (CONY) meeting
(Lisboa, Portugal)
2016/01 Drug discovery for Machado-Joseph disease: preclinical studies
Universidad Complutense (Madrid, Spain)
2015/10 Drug discovery for Machado-Joseph disease: preclinical studies
Department of Neurology, University of Michigan, Ann Arbor (USA) (Michigan, United States)
2015/09 Biomarker Discovery: the relevance of studies with animal models Seminars on Biodiversity, Biotechnology and Biomedicine
University of Azores (Azores, Portugal)
2015/08 Drug discovery for Machado-Joseph disease: preclinical studies MJD Conference
(Cairns, Australia)
2014/07 Whole organism compound screening identifies serotonin signalling as a therapeutic target for spinocerebellar ataxia type 3
Institute of Biology - Department for Molecular Neurobiology and Genetics (Magdeburg, Germany)
2014/06 Animal models of neurodegenerative diseases: Machado-Joseph disease as an example Seminars on Biodiversity, Biotechnology and Biomedicine
(Azores, Portugal)
2014/01 Therapeutic approaches for Machado-Joseph disease: study in a mouse model Symposium on Rare Diseases
(Porto, Portugal)
2013/12 Therapeutic models and approaches in SCA3
IGBMC (Strasbgourg, France)
2013/10 Therapeutic models and approaches in SCA3 Summer course of the TreatPolyQ PhD program
(Corsica, France)
2013/10 Ataxin-3 gain and loss of function in SCA3 Summer course of the TreatPolyQ PhD program
(Corsica, France)
2013/06 Pharmacotherapy for Machado-Joseph disease: From worm to mouse to human? Annual Meeting of the Portuguese Society for Neurosciences
(Luso, Portugal)
2012/12 Between Genes and Neurons II Annual PhD Meeting
FMUP
2012/03 Modeling MJD/SCA3 in the mouse and in C. elegans: probing pathogenesis towards therapies Ataxia Investigators Meeting
(San Antonio, Texas, United States)
2012/03 Therapeutic strategies for MJD/SCA3: an update on research data Annual Ataxia Conference - National Ataxia Foundation
(San Antonio, Texas, United States)
2012/02 Developing therapeutic strategies for Machado-Joseph disease: from worm to mouse (to human?)
IBILI, University of Coimbra (Coimbra, Portugal)
2012/01 Molecular genetics of Machado-Joseph disease: modeling ataxin-3 function and dysfunction
IBMC, University of Porto (Porto, Portugal)
2011/10 Machado-Joseph disease: from the gene to therapies, slowly but surely Annual Meeting of The Portuguese Society for Human Genetics
(Lisbon, Portugal)
2011/01 Neurodevelopmental Disorders - State of the art in etiology and intervention Genetics of Intelectual Disability
Sociedade Portuguesa de Pediatria do Neurodesenvolvimento (Porto, Portugal)
2010/10 Molecular Biology: from research to the clinical practice 11ª reunião da Sociedade Portuguesa de Pediatria
(Funchal, Portugal)
2010 In vivo models of ataxin-3 aggregation Polyglutamine diseases: a common polyglutamine tract, a diversity of structures and functions
IBMC, University of Porto (Porto, Portugal)
2009 In vivo models and tools in Neuroscience Research XIII Congress of the Spanish Society for the Neurosciences
(Tarragona, Spain)
2009 Neurochemical study of a mouse model of Rett Syndrome
Faculty of Medicine of the Univesité de Marseille (Marseille, France)
2008/11 Genotype-phenotype correlation in a transgenic mouse model of Machado-Joseph disease 12ª Reunião da Sociedade Portuguesa de Genética Humana
(Coimbra, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2022 - Current The involvement of skeletal muscle in SCA3: contribution to disease, the potential for biomarker development and therapeutic targeting
Supervisor of Daniela Raquel Cunha Garcia
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2021 - Current To Eat or to seek: the dynamics between autophagy and food sensing mechanisms
Supervisor of Jorge Humberto Esperança Fernandes
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2020 - Current Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a particular focus on serotonergic system modulation
Supervisor of Daniela Monteiro Fernandes
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2019 - Current Chemogenomics screening for novel therapeutic target identification in a C. elegans model of Machado-Joseph disease
Supervisor of Daniela Vilasboas da Silva Campos
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2019 - Current Nuclear ATXN3 DUB physiological substrates: towards understanding their role in the context of Machado-Joseph Disease
Supervisor of Liliana Costa
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2018 - Current Correlating genotype and cellular phenotypes in iPS-derived cells from patients with neurological and neuroendocrine disorders
Supervisor of Joana Correia
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2013 - Current Defining molecular determinants of neuron-specific pathogenesis of Machado-Joseph disease
Supervisor of Liliana Santos
 Health Sciences (PhD)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Medicina, Portugal
2022 - 2024/01/16 Interneuron characterization in Rett Syndrome: insights from mice prefrontal cortex
Supervisor of Isabella França Santos de Oliveira
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2019 - 2022 A comprehensive characterization of cerebellar (dys)function in Spinocerebellar Ataxia Type 3
Supervisor of Ana Catarina Vilaça Ferreira
 Biochemistry (Master)
Universidade do Minho Escola de Medicina, Portugal
2016 - 2022 The role of aging-related microglia dysfunction in the neurodegenerative process of Machado-Joseph disease
Supervisor of Ana Bela Campos
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2019 - 2021 Study of the neuroprotective activity of medicinal plants in Caenorhabditis elegans models of Alzheimer's Disease and Frontotemporal Dementia
Supervisor of Jorge Fernandes
Biochemistry (Master)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Ciências, Portugal
2019 - 2021 Impact of astrocytic calcium suppression in the pathogenesis of Machado-Joseph disease
Supervisor of Daniela Raquel Cunha Garcia
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2017 - 2021 Role of Stasimon in the development and disease of the motor system
Supervisor of Jorge Diogo Cruz Ramos da Silva
Medicine (PhD)
NewYork-Presbyterian/Columbia University Medical Center, United States

Universidade do Minho Escola de Medicina, Portugal
2018 - 2020 Therapeutic Impact of the Modulation of Serotonergic Signaling in Caenorhabditis elegans Models of Proteotoxicity
Supervisor of Bruna Lomba
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2015 - 2019 Identification of genetic modifiers of Machado Joseph disease (MJD) using a Caernohabditis elegans transgenic model
Supervisor of Marta Daniela Costa
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2015 - 2019 Genomic approaches in idiopathic intellectual disability
Supervisor of Maria de Fátima e Costa Torres
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010/09 - 2018/08 Functional analysis of genes involved in neurodevelopmental disorders in the nematode C. elegans
Supervisor of Carlos Jorge Pereira Bessa
 Postdoctoral Fellowship (Other)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2017/11 - 2018/01 Exploring the involvement of striatum in the pathology of Machado-Joseph disease: study in a mouse model
Co-supervisor of Bruna Melissa Ferreira da Lomba
 Laboratory Rotation - MSc in Health Sciences (Other)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Medicina, Portugal
2017 - 2018 Assessment of neuroprotective effects of medicinal plants
Supervisor of Daniela Vilasboas da Silva Campos
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Ciências, Portugal
2012 - 2018 Analysis of intermediate ataxin-3 aggregation species as biomarkers and pathogenic entities in Machado-Joseph disease
Supervisor of Ana Luísa Jales de Sousa
Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2013 - 2017 Finding novel genes for intellectual disability by whole exome sequencing
Supervisor of Fátima Daniela Teixeira Lopes
Health Sciences (PhD)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Medicina, Portugal
2013 - 2017 Discovering new pathways underlying ASD: chromatin remodeling and regulation of gene expression
Co-supervisor of Catarina Seabra
Ciências Biomédicas (PhD)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Harvard Medical School, United States

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012/10 - 2016/07 Pharmacologic therapy for Machado-Joseph disease: from a C. elegans drug screen to a mouse model validation
Supervisor of Anabela Silva Fernandes
 Postdoctoral Fellowship (Other)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2012 - 2016 Pre-clinical trials for Machado-Joseph disease: hypothesis-based and hypothesis-free therapeutic approaches
Supervisor of Sofia Esteves
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2014 - 2015 Analysis of transcriptomic data for inference of the function of the ATXN3 gene in neuronal cells
Supervisor of Manuel José Gil Nogueira Ferreira
Bioinformatics (Master)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Engenharia, Portugal
2011 - 2015 Therapeutic strategies for Machado-Joseph disease: study in a mouse model
Supervisor of Sara Duarte Silva
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2013 - 2014/01 Study of the pathological involvement of skeletal muscle in a mouse model of Machado-Joseph disease
Supervisor of Célia Maria Peixoto de Sousa
Medicine (Universidade do Minho) (Master)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Medicina, Portugal
2013 - 2014/01 Identification of compounds with therapeutic potential for Machado-Joseph disease in a C. elegans model
Supervisor of Joana Sofia Rodrigues Afonso
Medicine (Universidade do Minho) (Master)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Medicina, Portugal
2013 - 2014 Validation of neuronal inclusions as a biomarker for pre-clinical trials in a mouse model of Machado-Joseph disease
Supervisor of Revina Ann Mary
Health Sciences (Master)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Universidade do Minho Escola de Medicina, Portugal
2011/01 - 2014 Identification of therapeutic compounds that modulate ataxin-3 aggregation and neurological dysfunction in a C. elegans model of Machado-Joseph disease
Supervisor of Andreia Cristiana Teixeira de Castro
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2014 Identifying ataxin-3 substrates: a step towards understanding its physiological role
Supervisor of Andreia Alexandra Neves Carvalho
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2014 Interplay between the Ubiquitin-Proteasome System and mechanisms of neurodegeneration in the context of Machado-Joseph disease
Supervisor of Márcio Baptista
Biologia (PhD)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2012/01 - 2013/06 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease
Supervisor of Mafalda Martins de Araújo
 Postdoctoral Fellowship (Other)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2012 - 2013/01 Study of Hsp90 inhibition as a therapeutic strategy in a mouse model of Machado-Joseph disease.
Supervisor of Liliane Andreia de Morais Fernandes e Marques Godinho
 Medicine (Master)
Universidade do Minho Escola de Medicina, Portugal
2012 - 2013 Neuropathologic study of a transgenic mouse model of Machado-Joseph disease
Supervisor of Ana Marina Araújo Amorim
Molecular Genetics (Master)
Universidade do Minho Escola de Ciências, Portugal
2012 - 2013 Effects of ataxin-3 loss and gain of function: characterization of neuronal cell lines overexpressing wild-type and mutant forms of mutant ataxin-3
Supervisor of Ana Maria Salgueiro Freitas
Molecular Genetics (Master)
Universidade do Minho Escola de Ciências, Portugal
2012 - 2013 Searching for therapeutic strategies in a C. elegans model of Machado-Joseph disease
Co-supervisor of Franziska Pohl
Chemistry (Master)
Robert Gordon University, United Kingdom
2011 - 2012/03 Clinical Relevance of Copy Number Variations Detected by Array-CGH in six Patients with Unexplained Non-Syndromic Intellectual Disability
Co-supervisor of Ana Isabel Borges Ferraz
Medicine (Master)
Universidade de Coimbra, Portugal
2011 - 2012 Study of the W402X mutation: frequency of the lysosomal a -L-iduronidase variant in the Portuguese population and function analysis
Co-supervisor of Diogo Ribeiro
Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2011 - 2012 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease: targeting autophagy
Supervisor of Sara Carvalho
 Biochemical Technology Applied to Health Sciences (Master)
Instituto Politécnico do Porto, Portugal
2008 - 2012 Yeast models of Machado-Joseph disease
Co-supervisor of Maria de Belém Sampaio Marques
Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2011 - 2011 Laboratory rotation "Therapeutic strategies for Machado-Joseph disease: study in a mouse model"
Supervisor of Carina Soares Cunha
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2011 Screening of therapeutic compounds in a C. elegans model for Machado-Joseph disease pathogenesis
Supervisor of Ana Luísa Sousa
Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2011 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease: targeting mitochondria
Supervisor of Adriana Miranda
 Anatomia Patológica, Citológica e Tanatológica (Master)
Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
2010 - 2011 Genetic study of mental retardation in Portugal: development of dosage detection methods for molecular diagnosis
Supervisor of Susana Sousa
Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2011 Genetic study of intellectual disability in Portugal: two methodological approaches
Supervisor of Ana Sofia Lopes
Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2011 Insights into pathology and neurodegeneration features in a transgenic mouse model of Machado-Joseph disease
Supervisor of Sara Duarte Silva
Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2011 Genetic study in a group of patients with Rett-like phenotype without MECP2 gene mutation
Co-supervisor of Eva Catarina Couto Silva
 Medicine (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 - 2011 Screening of therapeutic compounds for Machado-Joseph disease using a C. elegans model
Supervisor of Carina Coelho
 Biochemistry (Degree)
Universidade do Minho Escola de Ciências, Portugal
2007 - 2011 Identification of modulators of pathological ataxin-3 misfolding and toxicity in animal models of Machado-Joseph disease
Supervisor of Andreia Cristiana Teixeira de Castro
Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2009/01 - 2010/12 Study of the stress response of the C. elegans ataxin-3 knockout animals
Supervisor of Ana João Rodrigues
 Postdoctoral Fellowship (Other)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2010 - 2010 Genomic imbalances in patients with intellectual disability
Supervisor of Fátima Daniela Teixeira Lopes
 Biotechnology (Master)
Universidade de Aveiro, Portugal
2010 - 2010 Laboratory rotation "Modeling Machado-Joseph disease pathogenesis in C. elegans: search for modifier genes"
Supervisor of Diogo Ribeiro
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2010 Laboratory rotation "Clinical and Genetic study of X-linked mental retardation (XLMR) in Portugal: validation of a gene panel for diagnosis"
Supervisor of Sofia Lopes
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2010 Laboratory rotation "Phenotypic characterization of isu-1 knockout animals"
Supervisor of Bárbara Silva
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2010 Laboratory rotation “Molecular determinants of ataxin-3 knockouts thermoresistance phenotype”
Supervisor of Cristina Mota Silva
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2010 - 2010 Laboratory rotation "Clinical and Genetic study of X-linked mental retardation (XLMR) in Portugal: validation of a gene panel for diagnosis"
Supervisor of Francisca Silva
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2009 - 2010 Study of the pathogenesis of Machado-Joseph disease in Caenorhabditis elegans: determining the protein levels of molecular chaperones
Supervisor of Stéphanie Oliveira
Applied Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2009 - 2010 Evaluation of the role of chromatin remodeling in the pathogenic mechanism of Machado-Joseph disease
Supervisor of Sara Calafate
 Applied Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2009 - 2010 Study of the pathogenesis of Machado-Joseph disease : study in a transgenic mouse model
Supervisor of Diana Araújo
 Applied Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2009 - 2010 Anatomopathological study of transgenic mouse brains in Machado-Joseph disease
Supervisor of Sónia Puga
 Applied Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2009 - 2010 Neurochemical study of an animal model of Rett syndrome
Supervisor of Beatriz Soares
 Biochemistry (Degree)
Universidade do Minho Escola de Ciências, Portugal
2006 - 2010 Machado-Joseph disease: from genetic variability to clinical heterogeneity
Co-supervisor of Maria da Conceição Félix Bettencourt
 Biologia (PhD)
Universidade dos Açores, Portugal
2006 - 2010 Characterization of a transgenic mouse model of Machado-Joseph disease
Supervisor of Anabela Silva Fernandes
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2007/09 - 2009/05 Role of neuroinflammation in the pathogenesis and progression of Machado-Joseph disease
Supervisor of Cláudia Botelho
 Postdoctoral Fellowship (Other)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2008 - 2009 Increased thermotolerance in the absence of ataxin-3 in C.elegans
Supervisor of Andreia Alexandra Neves Carvalho
 Health Sciences (Master)
Universidade do Minho Escola de Medicina, Portugal
2008 - 2009 Search for mutations for the CDKL5 gene in lesions with Rett-like phenotype caused by mutation in the MECP2 gene
Supervisor of Fátima Daniela Teixeira Lopes
 Pathological, Cytological and Thanatological Anatomy (Degree)
Universidade do Porto, Portugal
2007 - 2009 Laboratory rotation “Molecular determinants of ataxin-3 knockouts thermoresistance phenotype” and “Study of the functional redundancy between ataxin-3 and the josephin protein in a C. elegans model”
Supervisor of Andreia Alexandra Neves Carvalho
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2004 - 2008 Molecular genetic analysis of the Mus musculus homogue of the Machado-Joseph disease gene
Supervisor of Maria do Carmo Costa
Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2004 - 2008 Clinical and Genetic study of Rett syndrome in Portugal
Co-supervisor of Teresa Maria Pereira Padrão Temudo
Medicine (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2004 - 2008 Susceptibility to systemic mycoses in immunodeficient patients: analysis of molecular factors
Co-supervisor of Agostinho Carvalho
Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2004 - 2008 Cellular and physiologic changes associated to lack of Josephin: analysis of a C. elegans KO model
Supervisor of Ana João Rodrigues
Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2006 - 2007 In vivo dynamics of ataxin-3 aggregation in Caenorhabditis elegans neurons
Supervisor of Andreia Cristiana Teixeira Castro
 Molecular Genetics (Master)
Northwestern University Department of Molecular Biosciences, United States

Universidade do Minho Escola de Ciências, Portugal
2006 - 2007 Searching for new molecular partners of ataxin-3 protein in C. elegans
Supervisor of Andreia Alexandra Neves Carvalho
 Applied Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2006 - 2007 Machado-Joseph disease: study in a transgenic mouse model
Supervisor of Sara Duarte Silva
 Applied Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2003 - 2007 Identification of molecular interactors of ataxin-3
Supervisor of Anabela da Conceição Pinto Ferro
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2007 Study of the molecular and genetic causes of schizophrenia: retinoid and thyroid hormones hypothesis
Co-supervisor of Dina Ruano
 Health Sciences (PhD)
Universidade do Minho Escola de Medicina, Portugal
2003 - 2007 Identification of molecular interactors of ataxin-3
Co-supervisor of Anabela da Conceição Pinto Ferro
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2007 Study of the pathogenesis of Rett syndrome and of the role of the MECP2 protein in neuronal function
Supervisor of Mónica Santos
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2002 - 2007 Study of the pathogenesis of Rett syndrome and of the role of MECP2 protein in neuronal function
Supervisor of Mónica Santos
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2006 - 2006 Laboratory rotation “Characterization of Mecp2-null mice”
Supervisor of Ana Raquel Franky Carvalho
MD/PhD (PhD)
Universidade do Minho Escola de Medicina, Portugal
2004 - 2005 Anatomopathological characterization of a Machado-joseph disease transgenic model
Supervisor of Alexandra Lopes
 Pathological, Cytological and Thanatological Anatomy (Degree)
Instituto Politécnico de Coimbra Escola Superior de Tecnologia da Saúde de Coimbra, Portugal
1999 - 2005 Molecular Genetics of Machado-Joseph disease: models for study in C. elegans
Supervisor of Claudia Sofia Ferreira e Lima dos Santos
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2003 Study of ataxin-3 protein interactions by Yeast Two-Hybrid: self-interaction and VCP/p97
Supervisor of Andreia Filipa Carvalho
Biochemistry (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2002 - 2003 Characterization of a transgenic mouse model of Machado-Joseph disease: phenotypic evaluation and transgene expression
Supervisor of Anabela Silva Fernandes
Biochemistry (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2002 - 2003 Characterization of a transgenic model of Machado-Joseph disease: phenotypic evaluation and transgene expression
Supervisor of Tiago Ferreira
Biology (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Faculdade de Ciências, Portugal
2002 - 2002 Molecular Diagnosis of Rett syndrome: establishment of new techniques
Supervisor of Eurico Duarte Coelho
Biology (Degree)
Universidade da Madeira, Portugal
2001 - 2002 Identification and characterization of molecular interactors of ataxin-3 protein
Supervisor of Andreia Cristiana Teixeira Castro
 Biochemistry (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2001 - 2002 Molecular analysis of MECP2 gene in Rett syndrome patients
Supervisor of Inês Fonseca de Almeida Ramos
 Biology (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2001 - 2002 Creation of a transgenic model in the C. elegans nematode for the study of Machado-Joseph disease
Supervisor of Ricardo José Ribeiro Soares
Biology (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2000 - 2002 Retrospective study of genetic risk factors in patients with pediatric stroke and Genetics of multiple sclerosis
Supervisor of Jorge Pinto Basto
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2001 - 2001 Expression and purification of recombinant human ataxin-3 isoforms in bacteria
Supervisor of Luís Craveiro
Biochemistry (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2000 - 2001 Expression and purification of recombinat proteins in bacteria: ataxin-3 homologue in C. elegans
Supervisor of Carlos Melo
 Biochemistry (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
1998 - 1999 Contribution to the improvement of molecular diagnostic methods for Machado-Joseph disease and Huntington disease
Supervisor of Maria do Carmo Costa
Biochemistry (Degree)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2023/08/08 - 2023/08/11 Local Organizing Committee of the International Society for Neurochemistry - European Society for Neurochemistry (ISN-ESN) Meeting 2023 (Portugal) (2023/08/08 - 2023/08/11)
Meeting (Member of the Organising Committee)
 International Society for Neurochemistry, Switzerland
2023/08/03 - 2023/08/07 2023 ISN Advanced School (Caminha, Portugal) (2023/08/03 - 2023/08/07)
Other (Member of the Organising Committee)
 International Society for Neurochemistry, Switzerland
2018/04/02 - 2018/04/05 7th Ataxia Investigators Meeting (Philadelphia, United States) (2018/04/02 - 2018/04/05)
Meeting (Member of the Scientific Committee)
2017/09/27 - 2017/09/30 International Ataxia Research Conference (Piza, Italy) (2017/09/27 - 2017/09/30)
Conference (Member of the Scientific Committee)
2013/05/30 - 2013/06/01 13th Annual Meeting of the Portuguese Society for Neurosciences (Luso, Portugal) (2013/05/30 - 2013/06/01)
Meeting (Member of the Scientific Committee)
2008 - 2008 V International Workshop on Machado-Joseph Disease (Furnas, São Miguel, Azores, Portugal) (2009/04/01 - 2009/04/03)
Workshop (Member of the Organising Committee)
2008 - 2008 11th Annual Meeting of the Portuguese Society for Neuroscience (Braga, Portugal) (2009/06/04 - 2009/06/06)
Meeting (Member of the Scientific Committee)
2008 - 2008 11th Annual Meeting of the Portuguese Society for Neuroscience (Braga, Portugal) (2009/06/04 - 2009/06/06)
Meeting (Member of the Organising Committee)
2008 - 2008 V International Workshop on Machado-Joseph Disease (Furnas, São Miguel, Azores, Portugal) (2009/04/01 - 2009/04/03)
Workshop (Member of the Scientific Committee)

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2015 - 2015 Course attendee “ebooks Educacionais: Desenvolvimento e Aplicação”
TecMinho Associação Universidade-Empresa para o Desenvolvimento, Portugal
2014/12/01 - 2014/12/12 Post-graduation course - "Laboratory Animal Science"
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2014/02/19 - 2014/02/22 Training in Neurotherapeutics Drug Discovery and Development for Academic Scientists
2014 - 2014 Training session O curriculum e as metodologias de ensino/aprendizagem: desenvolvimentos recentes na aplicação de tecnologias de comunicação no ensino/aprendizagem
Universidade do Minho, Portugal
2009 - 2009 Course attendee Qualidade: Formação Pedagógica de Docentes
Universidade do Minho, Portugal
2009 - 2009 Course attendee Programação de Unidades Curriculares e Planificação
Universidade do Minho, Portugal
2007 - 2007 Training session Estratégias adaptadas a turmas grandes (n>100)
Universidade do Minho Escola de Medicina, Portugal
2006 - 2006 Course attendee Effective Grading
Universidade do Minho Escola de Medicina, Portugal
2006 - 2006 Training session Treino Básico em Perguntas de Escolha Múltipla
Universidade do Minho Escola de Medicina, Portugal
2006 - 2006 Course attendee Tecnologias de Informação e Comunicação (TIC) e o ensino das Ciências: diálogos entre as literacias digital e científica
Universidade do Minho, Portugal
2005 - 2005 Course attendee Avaliação: o objectivo e o subjectivo
Universidade do Minho, Portugal
2005 - 2005 Course attendee Effective Teaching
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2004 - 2004 Course attendee Biostatistics in Health Sciences
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2003 - 2003 Couse attendee Active Teaching and Learning in the Biomolecular Sciences
Universidade do Porto, Portugal
2002 - 2002 Course attendee Curso de Formação em Educação Médica II
Universidade do Minho, Portugal
2002 - 2002 Course attendee Curso de Formação em Educação Médica I
Universidade do Minho, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2024/01/16 Defining dihydroartemisinin-piperaquine resistance pathways in the malaria parasite
President of the jury
 Bruno José Ferreira Freitas (Master)
Universidade do Minho Escola de Medicina, Portugal
2023/12/12 Tau protein as a regulator of the hippocampal neurogenic niche
President of the jury
 Iara Pereira da Silva (Master)
Universidade do Minho Escola de Medicina, Portugal
2023/12/12 The role of plasmepsin 2/3 gene amplifications in the adaption of the digestive vacuole on Plasmodium falciparum antimalarial resistance
President of the jury
 Tiago da Costa Figueiredo (Master)
Universidade do Minho Escola de Medicina, Portugal
2023/04/11 Assessing the Role of Nucleocytoplasmic Transport Mechanisms in Machado-Joseph Disease Pathogenesis
(Thesis) Arguer
 Maria Inês Morgado Oliveira Martins (PhD)
Universidade de Coimbra, Portugal
2022 Time-dependent characterization of sex-differences on the chronic constriction injury (CCI) model of neuropathic pain
President of the jury
 Joana Filipa Martins Gonçalves (Master)
Universidade do Minho, Portugal
2022 Valence in the Nucleus Accumbens - Identifying Neural Populations in Appetitive and Aversive Responses
President of the jury
 Natacha Sofia Vieitas Gaspar (Master)
Universidade do Minho, Portugal
2021/07/26 The role of nuclear-encoded gene MPV17 in mtDNA maintenance
(Thesis) Arguer
 Sandra Clara Dias Jacinto Figueiredo (PhD)
Universidade de Lisboa Faculdade de Medicina, Portugal
2021 New insights on the impact of Transthyretin in neuroprotection and neurodegeneration Jessica Faria de Eira (PhD)
Universidade do Porto, Portugal
2021 Fabry Disease and the Heart Olga Esmeralda Padrão Azevedo da Silva (PhD)
Universidade do Minho, Portugal
2021 Molecular Therapies to Repair the Injured Spinal Cord Rui Augusto Ribeiro Lima (PhD)
Universidade do Minho, Portugal
2021 GPR81 in Bladder Cancer - Functional Insights
President of the jury
 Ana Mafalda de Azevedo Félix (Master)
Universidade do Minho, Portugal
2021 Dental anxiety, pain and mindfulness in patients undergoing dental procedures
President of the jury
 Maria Antónia Pereira de Barros (Master)
Universidade do Minho, Portugal
2021 A novel RNA-targeted therapeutic approach for Alzheimer’s disease and Down Syndrome
President of the jury
 Carlos Manuel Campos Marques (Master)
Universidade do Minho, Portugal
2021 Immunometabolic Regulation of Antifungal Immunity by Itaconate
President of the jury
 Maria Carolina Antunes Pereira (Master)
Universidade do Minho, Portugal
2021 Assessing the role of Sorting Nexins in the nervous system: insights from “stressed” synapses
President of the jury
 Gisela Cristina Vieira Armada (Master)
Universidade do Minho, Portugal
2021 Role of RKIP protein in the modulation of lung cancer cell metabolism
President of the jury
 Joana Filipa Barbosa Pinheiro (Master)
Universidade do Minho, Portugal
2021 The role of GSK-3 inhibition in lung injury
President of the jury
 Raquel Alexandra Gomes Fernandes (Master)
Universidade do Minho, Portugal
2021 Combining Stem Cells Secretome and N-acetylcysteine to Parkinson's Disease modeling and repair
President of the jury
 Rita Caridade Silva (Master)
Universidade do Minho, Portugal
2021 Deciphering the mechanisms underlying the role of interleukin-10 in cognitive function
President of the jury
 Rogério Cristiano Rocha de Castro (Master)
Universidade do Minho, Portugal
2021 Characterization of the mechanisms underlying behavioral alterations in interleukin-10 KO mice
President of the jury
 Sónia Beatriz Alves Gomes (Master)
Universidade do Minho, Portugal
2021 Oncogenic interplay between RKIP and PD-L1 in lung cancer: implications to immunotherapy response
President of the jury
 Maria Gabriela Pedrosa Ribeiro de Freitas (Master)
Universidade do Minho, Portugal
2021 Interplay between adipose-derived stem cells and inflammatory mediators: impact on neurit outgrowth and vascular morphogenesis
President of the jury
 João Vítor Lemos Afonso (Master)
Universidade do Minho, Portugal
2021 HIF-1a mediated regulation of antifungal immunity in Chronic Obstructive Pulmonary Disease
President of the jury
 Sara Raquel da Silva Ferreira (Master)
Universidade do Minho, Portugal
2021 Targeting cancer cell metabolism using targeted drug delivery systems
President of the jury
 Andreia Raquel Pereira Nunes (Master)
Universidade do Minho, Portugal
2020 Copy Number Variation Detection in Next Generation Sequencing Data
(Thesis) Arguer
 Maria de Lurdes Gonçalves Caloba (Master)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2020 Role of Nucleus Accumbens Direct and Indirect Pathways in Anxiety- and Depressive-Like Behaviors
President of the jury
 Raquel Gonçalves Correia (Master)
Universidade do Minho, Portugal
2020 Implementation of a chronic social stress rat model and the effects of allopregnanolone to reverse depressive and anxiety-like signs in nulliparous and primiparous females
President of the jury
 Susana Cristina Soares Lima (Master)
Universidade do Minho, Portugal
2020 Determination of the appropriate dosage of adipose tissue-derived Stem Cell secretome for Spinal Cord Injury Regenerative Medicine Approaches
President of the jury
 Tiago André Moreira Gomes (Master)
Universidade do Minho, Portugal
2019/12/19 A new mechanism for selective protein loading into exossomes
(Thesis) Arguer
 Ana Margarida Rosa Soares (PhD)
Universidade Nova de Lisboa Comprehensive Health Research Centre, Portugal
2019 Uncover the duality of neuronal and glial dysfunctions in the neuropathogenesis of plasmalogen deficiency
(Thesis) Arguer
 Ana Rita Alves Malheiro (PhD)
Universidade do Porto, Portugal
2019 Mechanisms of actin cytoskeletal dynamics in oligodendrocyte biology and myelin formation Maria Manuela Azevedo (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Phenotypic Variability in Familial Amyloid Polyneuropathy: TTR modifiers in Caenorhabditis Elegans and Human Models
(Thesis) Arguer
 Miguel Fernando Alves Ferreira (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Functional Dissection of Dyenin Cofactors in Mitosis
(Thesis) Arguer
 Patrícia Carvalho Simões (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Role of TET3 enyme in brain function Cláudia Filipa Cunha Antunes (PhD)
Universidade do Minho, Portugal
2019 Combination of Cellular Therapy with Peptide-modified Gellan Gum Hydrogels for Spinal Cord Injury Repair Eduardo Domingos Correia Gomes (PhD)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2019 Unravel the functions of Acbd5 throough the generation and characterization of mouse mutants
(Thesis) Arguer
 Ricardo Manuel Balixa da Rosa (Master)
Universidade do Minho, Portugal
2019 Exploiting RKIP protein as a novel predictor of EGFR targeted therapies response in lung cancer
President of the jury
 Ana Raquel Ferreira Cunha (Master)
Universidade do Minho, Portugal
2019 Cognitive performance: exploring the role of Interleukin-10 in male mice
President of the jury
 Ângela Sofia Gerós Mesquita (Master)
Universidade do Minho, Portugal
2019 Mesenchymal Stem Cells Secretome-derived Exosomes: Biological Nanovesicles for the Treatment of Parkinson's Disease?
President of the jury
 Helena Maria Vilaça Faria (Master)
Universidade do Minho, Portugal
2019 Decoding the interplay between TAZ and metabolism in early lung development
President of the jury
 Henrique Emanuel Araújo Silva (Master)
Universidade do Minho, Portugal
2019 Dissecting chemotherapy resistance in prostate cancer: interplay between RKIP and androgen stimulation
President of the jury
 Inês Fernandes Lages (Master)
Universidade do Minho, Portugal
2019 Social behavior under chronic pain conditions – The role of oxytocin
President of the jury
 Joana Catarina Pereira Mendes (Master)
Universidade do Minho, Portugal
2019 Dissecting pentraxin-3 role in the modulation of Multiple Sclerosis
President of the jury
 Joana Lima Sá (Master)
Universidade do Minho, Portugal
2019 The potential role of innate immune memory in Multiple Sclerosis disease using autoimmune experimental encephalomyelitis mouse model
President of the jury
 Marta Sofia Carvalhal Monteiro (Master)
Universidade do Minho, Portugal
2018 Unravelling new spastic paraplegia genes and their functions through next generation sequencing
(Thesis) Arguer
 Sara Peres Morais (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 Unravelling new spastic paraplegia gene and their functions through next generation sequencing
(Thesis) Arguer
 Sara Peres Morais (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 Avaliação de modificadores do fenótipo na doença de Machado-Joseph
(Thesis) Arguer
 Eduardo Preusser de Mattos (PhD)
Fundação de Apoio da Universidade Federal do Rio Grande do Sul, Brazil
2018 Mechanisms of aging: neuronal orchestration of stress resistance and protein homeostasis in the nematode Caenorhabditis elegans
(Thesis) Arguer
 Filipa Carvalhal Mrques (PhD)
Universidade de Coimbra, Portugal
2018 Stargazin mutations and psychiatric disorders: the case of intellectual disability
(Thesis) Arguer
 Nuno Miguel Beltrão Marques (Master)
Universidade de Coimbra, Portugal
2018 A role of local translation at presynaptic terminals Andreia Filipa Rodrigues Batista (PhD)
Universidade do Minho, Portugal
2018 The role of signaling lipids in the nervous system physiology and pathology: mechanistic insights of the phospholipase D pathway in neurodegenerative diseases Ana Francisca Rodrigues Vaz Bravo (PhD)
Universidade do Minho, Portugal
2018 Unveil the role of actin on KRAS induced autophagy in colorectal cancer, using Caenorhabditis elegans as an “in vivo” model
(Thesis) Arguer
 Adriana Manuela da Silva Mendes (Master)
Universidade do Minho, Portugal
2018 Avaliação dos Efeitos Terapeuticos do Secretoma de Células Estaminais de Tecido Adiposo em Lesões Vertebro-Medulares
President of the jury
 Jorge Miguel Cibrão Ribeiro (Master)
Universidade do Minho, Portugal
2018 Anti-aging strategies in yeast: the impact of amino acids supplementation
President of the jury
 Ana Rita Fernandes dos Santos (Master)
Universidade do Minho, Portugal
2018 Striatal modulation by lipocalin-2
President of the jury
 Inês Miguel Marques Pereira (Master)
Universidade do Minho, Portugal
2018 CDH3/P-cadherin as a novel biomarker in gliomas: mechanistic, functional and prognostic insights
President of the jury
 Eduarda Pereira Martins (Master)
Universidade do Minho, Portugal
2018 Sporothrix brasiliensis – From the genome to the phenotype
President of the jury
 Beatriz Henriques Ferreira (Master)
Universidade do Minho, Portugal
2018 Innate regulation of granulomatous inflammation in sarcoidosis
President of the jury
 Ana Cláudia Ferreira Campos (Master)
Universidade do Minho, Portugal
2018 A Positive Modulator of AMPA Receptors Against Alzheimer’s disease Pathology: In Vivo Studies
President of the jury
 Daniela Monteiro Fernandes (Master)
Universidade do Minho, Portugal
2018 Crosstalk between glutaminolysis and autophagy in AML cells
President of the jury
 Alexandra Catarina Pereira Teixeira (Master)
Universidade do Minho, Portugal
2018 Immunometabolic control of antifungal innate immunity
President of the jury
 Immunometabolic control of antifungal innate immunity (Master)
Universidade do Minho, Portugal
2018 Clarifying the role of Tau protein in the mechanims of peripheral neuropathy
President of the jury
 Sara Francisca Ramalhosa Guerreiro (Master)
Universidade do Minho, Portugal
2018 The effects of stress and glucocorticoids in glioma aggressiveness
President of the jury
 Marta Sofia Pereira Lopes (Master)
Universidade do Minho, Portugal
2018 Finding new secretomes for Parkinson's Disease regenerative Medicine Applications
President of the jury
 Ana Verónica Mendes Domingues (Master)
Universidade do Minho, Portugal
2018 Influence of host-pathogen genetic variants on malaria chemotherapy
President of the jury
 Isaac Miguel Sánchez (Master)
Universidade do Minho, Portugal
2018 Study of functional role nad therapeutic influence of the tumor supressor gene SPINT2 in melanoma
President of the jury
 Sónia Pires Celeiro (Master)
Universidade do Minho, Portugal
2017 Deciphering the role of ab-crystallin in huntington's disease
(Thesis) Arguer
 Ana Cristina Osório Marinho Oliveira (PhD)
Universidade de Lisboa Faculdade de Medicina, Portugal
2017 The role of genetic and epigenetic mechanims as modifiers of age-of-onset (AO) in Familial Amyloid Polypathy
(Thesis) Arguer
 Diana Isabel da Silva Santos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 CAG repeat instability in Huntington's Disease: insights from HD patients and mouse models
(Thesis) Arguer
 João Luís Aguiar Martins Neto (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 Dissecting the role of GPRASP2 in autism spectrum disorder and intellectual disability
(Thesis) Arguer
 Mohamed Edfawy Soliman Hussien (PhD)
Universidade de Coimbra, Portugal
2017 Desenvolvimento de um método de deteção de CNVs através de qPCR
(Thesis) Arguer
 Inês Mariana Cardoso Eulálio (Master)
Universidade de Aveiro, Portugal
2017 Identification of candidate genes associated with primary congenital glaucoma in patients negative for CYP1B1 mutations
(Thesis) Arguer
 Susana Margarida Martins Carmona (PhD)
Universidade de Coimbra, Portugal
2016 PhD in Biomedical Sciences
(Thesis) Arguer
 Ana Maria Ferreira da Silva (PhD)
Universidade de Lisboa Faculdade de Medicina, Portugal
2016 Molecular characterization and pathogenic mechanism involved i dominat ataxias
(Thesis) Arguer
 Isabel da Conceição Moreira Pereira Alonso (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2016 Studies on molecular mechanisms underlying spinocerebellar ataxia type 3 Line Vildbrad Kristensen (PhD)
Københavns Universitet, Denmark
2016 Identification of genetic modifiers of somatic CAG instability in Huntington's Disease by in vivo CRISPR-Cas9 genome editing
(Thesis) Arguer
 António Gil Cabral de Azevedo (Master)
Universidade do Porto Faculdade de Engenharia, Portugal
2015 Presynaptic formation and function under the control of ubiquitin and the proteosome
(Thesis) Arguer
 Maria Joana Guimarães Pinto (PhD)
Universidade de Coimbra, Portugal
2014 Neuropathologic study of a transgenic mouse model of Machado-Joseph disease
Supervisor
 Ana Marina Araújo Amorim (Master)
Universidade do Minho, Portugal
2014 Functional genomics of the ubiquitin-proteasome system in C elegans nervous system
Supervisor
 Márcio Paulo Simões Baptista (PhD)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2014 Copy number variation in Huntington's disease: Analysis and association of candidate CNVs with the potential to vary the adult age-of-onset in Huntington's disease
(Thesis) Main arguer
 Angelica Vittori (PhD)
Universidade de Lisboa Faculdade de Medicina, Portugal
2014 Copy number variation and Huntington Disease
(Thesis) Arguer
 Angelica Vittori (PhD)
Universidade de Lisboa, Portugal
2013 Effects of ataxin-3 loss and gain of function: characterization of neuronal cell lines overexpressing wild-type and mutant forms of ataxin-3
Supervisor
 Ana Maria Salgueiro Freitas (Master)
Universidade do Minho Escola de Ciências, Portugal
2013 Identification of neuronal alterations induced by SHANK3 mutations using iPS cells from Phelan-McDermid patients-fibroblasts
(Thesis) Arguer
 Manuella Mendes Martins (Master)
Instituto Politécnico do Porto, Portugal
2012 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease: targeting autophagy
Supervisor
 Sara Carvalho (Master)
Instituto Politécnico do Porto, Portugal
2012 Study of the W402X mutation: frequency of the lysosomal a -L-iduronidase variant in the Portuguese population and function analysis
Supervisor
 Diogo Ribeiro (Master)
Universidade do Minho, Portugal
2012 Protein Aggregation in Aging
(Thesis) Main arguer
 Pedro José Reis Rodrigues (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012 PhD in Biomedical Sciences
(Thesis) Main arguer
 Sara Catarina Timóteo dos Santos Domingues (PhD)
Universidade de Aveiro, Portugal
2012 Animal welfare and the implementation of Refinement in biomedical research
(Thesis) Main arguer
 Nuno Henrique Palmeira Franco Ferreira (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012 Studies on the activity of ataxin-3 and mitochondrial dysfunction in Machado-Joseph
(Thesis) Main arguer
 Mário Luís Nôro Laço (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2012 HIF & Chips: A new autophagic pathway for the degradation of HIF-1a
(Thesis) Main arguer
 João Vasco Oliveira Ferreira (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2012 CLINICAL RELEVANCE OF COPY NUMBER VARIATIONS DETECTED BY ARRAY-CGH IN SIX PATIENTS WITH UNEXPLAINED NON-SYNDROMIC INTELLECTUAL DISABILITY
Supervisor
 ANA ISABEL BORGES FERRAZ (Master)
Universidade de Coimbra, Portugal
2011 Insights into pathology and neurodegeneration features in a transgenic mouse model of Machado-Joseph disease
Supervisor
 Sara Silva (Master)
Universidade do Minho Escola de Ciências, Portugal
2011 Genetics of intellectual disability in Portugal: two methodological approaches
Supervisor
 Sofia Lopes (Master)
Universidade do Minho, Portugal
2011 Screening of therapeutic compounds in a C. elegans model for Machado-Joseph disease pathogenesis
Supervisor
 Ana Luísa Jalles de Sousa (Master)
Universidade do Minho Escola de Ciências, Portugal
2011 Estudo genético do atraso mental em Portugal: desenvolvimento de métodos de detecção da dosagem alterada de genes com vista ao diagnóstico molecular
Supervisor
 Susana Sousa (Master)
Universidade do Minho, Portugal
2011 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease: targeting mitochondria
Supervisor
 Adriana Miranda (Master)
Instituto Politécnico do Porto, Portugal
2011 Screening of therapeutic compounds in a C. elegans model of Machado-Joseph disease: targeting mitochondria
Supervisor
 Fátima Lopes (Master)
Universidade de Aveiro, Portugal
2011 Master in Molecular Biomedicine
(Thesis) Arguer
 Filipa de Sá Martins (Master)
Universidade de Aveiro, Portugal
2011 Identification of modulators of pathological ataxin-3 misfolding and toxicity in animal models of Machado-Joseph disease
Supervisor
 Andreia Cristiana Teixeira de Castro (PhD)
Universidade do Minho, Portugal
2011 Genetic study in a group of patients with Rett-like phenotype without MECP2 gene mutation
Supervisor
 Eva Catarina Couto Silva (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 Increased thermotolerance in the absence of ataxin-3 in C. elegans
Supervisor
 Andreia Carvalho (Master)
Universidade do Minho, Portugal
2010 Characterization of a transgenic mouse model of Machado-Joseph disease
Supervisor
 Anabela Silva Fernandes (PhD)
Universidade do Minho, Portugal
2010 Transcriptional variation of the ATXN3 gene as a modulator of clinical heterogeneity in Machado-Joseph disease
Supervisor
 Maria Conceição Bettencourt (PhD)
Universidade dos Açores Departamento de Biologia, Portugal
2009 Post-translational modifications of ataxin-3, the protein involved in Machado-Joseph disease - Evidences for phosphorylation and sumoylation
(Thesis) Arguer
 Carlos Matos (Master)
Universidade de Coimbra, Portugal
2009 Study of the establishment of genomic imprinting in human spermatogenesis
(Thesis) Main arguer
 Joana Moreira Marques (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2009 Genetic factors in Autism Spectrum Disorders (ASD) and in variability in individual response to risperidone therapy
(Thesis) Main arguer
 Catarina Alexandra Tavares Correia (PhD)
Universidade Autónoma de Lisboa, Portugal
2009 Genetic and Epidemiological study of migraine
(Thesis) Main arguer
 Carolina Luísa Cardoso Lemos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009 Post-translational modifications of Ataxin-3, the protein involved in Machado-Joseph Disease: evidences for phosphorylation and sumoylation
(Thesis) Arguer
 Carlos Adrino Albuquerque Andrade de Matos (Master)
Universidade de Coimbra, Portugal
2009 Establishment of genomic imprinting in human spermatogenesis
(Thesis) Arguer
 Cristina Joana Moreira Marques (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2008 Molecular Genetic analysis of the Mus musculus homologue of the Machado-Joseph disease gene
Supervisor
 Maria do Carmo Costa (PhD)
Universidade do Minho, Portugal
2008 Cellular and physiologic changes associated to lack of Josephin: analysis of a C. elegans KO model
Supervisor
 Ana João Rodrigues (PhD)
Universidade do Minho, Portugal
2008 Modelling and gene silencing in Machado-Joseph disease
(Thesis) Main arguer
 Sandro Alves (PhD)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2007 Avaliação de genes candidatos na retinopatia diabética
(Thesis) Arguer
 Ângela Sofia Oliveira Castela (Master)
Universidade de Coimbra, Portugal
2007 Frequência da mutação F508del no gene CFTR na população portuguesa
(Thesis) Arguer
 Marisa Raquel Costa Teixeira (Master)
Universidade do Minho, Portugal
2007 In vivo dynamics of ataxin-3 aggregation in Caenorhabditis elegans neurons
Supervisor
 Andreia Cristiana Teixeira Castro (Master)
Universidade do Minho Escola de Ciências, Portugal
2007 Caracterização de sete variações de sequência identificadas no gene NOTCH3 em doentes portugueses com hipótese diagnóstica de CADASIL
(Thesis) Arguer
 Maria Margarida Marques Neves Venâncio (Master)
Universidade do Porto, Portugal
2007 Mechanisms of neurodegeneration in transgenic models of Huntington's disease
(Thesis) Main arguer
 Joana Amaral Gil (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2007 Study of the molecular and genetic causes of schizophrenia: retinoid and thyroid hormones hypothesis
Supervisor
 Dina Ruano (PhD)
Universidade do Minho, Portugal
2007 Study of the pathogenesis of Rett syndrome and of the role of the MECP2 protein in neuronal function
Supervisor
 Mónica Joana Pinto dos Santos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2007 Identification of molecular interactors of ataxin-3
Supervisor
 Anabela da Conceição Pinto Ferro (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2007 Transcriptional dysregulation in Huntington's disease
(Thesis) Main arguer
 Catarina E. L. Ramos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2007 Susceptibility to systemic mycoses in immunodeficient patients: analysis of molecular factors
Supervisor
 Agostinho Carvalho (PhD)
Universidade do Minho, Portugal
2005 Molecular Genetics of Machado-Joseph disease: models for study in C. elegans
Supervisor
 Cláudia Sofia Ferreira e Lima dos Santos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2004 Master in Forensic Medicine
(Thesis) Arguer
 Andrea Louise Moutinho Gartner (Master)
2004 Master in Forensic Medicine
(Thesis) Arguer
 Pedro Manuel Oliveira e Sousa de Albergaria Resende (Master)
Universidade do Porto, Portugal
2003 INTERESSE DO ESTUDO DE STRs NA INVESTIGAÇÃO MÉDICO-LEGAL
(Thesis) Arguer
 PEDRO MANUEL OLIVEIRA E SOUSA DE ALBERGARIA RESENDE (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Ad Hoc journal article review

Journal title (ISSN) Publisher
2017 - Current Frontiers in Neuroscience
2017 - Current Frontiers in Genetics
2017 - Current Cerebellum
2017 - Current Experimental and Molecular Medicine
2017 - Current Neurochemistry International
2017 - Current Advances in Medical Sciences
2017 - Current Brain Sciences
2017 - Current Nature Communications
2017 - Current Disease Models and Mechanisms
2017 - Current Epigenomics
2017 - Current Movement Disorders
2016 - Current Molecules
2016 - Current Journal of Negative Results in Biology
2016 - Current Biomedical Research International
2016 - Current Scientific Reports
2016 - Current Brain Research
2016 - Current Neuropeptides
2016 - Current Journal of Experimental Neuroscience
2016 - Current Mutation Research
2016 - Current Libertas Academica
2016 - Current BMC Medical Genetics
2016 - Current Child
2016 - Current Worm
2016 - Current Brain Pathology
2016 - Current Epilepsia
2016 - Current JAMA Neurology
2015 - Current Mutation Research
2015 - Current PeerJ
2015 - Current Human Molecular Genetics
2015 - Current European Journal of Human Genetics
2015 - Current Journal of Neurochemistry
2015 - Current Clinical Genetics
2015 - Current Brain Research

Association member

Society Organization name Role
2024/02 - Current American Society for Human Genetics (ASHG) Member
2024/02 - Current International Society of Neurochemistry (ISN) Member
2024/02 - Current Society for the Neurosciences (SfN) Member
2024/02 - Current Portuguese Society of Human Genetics (SPGH) Member
2024/02 - Current Portuguese Society for Neurosciences (SPN) Member

Committee member

Activity description
Role 		Institution / Organization
2022 - Current Member of the Scientific Advisory Board of the Rare Diseases Advocacy Group "RD-Portugal"
Member
2021 - Current Member of the Evaluation Committee of Evaluation (CAVAV) of the School of Medicine, University of Minho
Member
 Universidade do Minho Escola de Medicina, Portugal
2020 - Current Elected member of the General Council of the University of Minho
Member
2019 - Current Member of the Policy Board of the European Joint Programme on Rare Diseases (EJP RD)
Other
2019 - Current Member of the European Joint Programme for Rare Diseases - National Mirror Group (Portugal)
2018 - Current Expert Committee for a Scientific Agenda for Portugal 2020-2030 (rapporteur for the theme "Precision Medicine and Biomarkers"), Portuguese Foundation for Science and Technology, Ministry of Science and Higher Education, Portugal.
Member
2018 - Current Scientific advisor of NIH funded project "Clinical trial readiness for spinocerebellar ataxias"
Advisor / Consultant
2018 - Current Elected member of the School Council and Pedagogic Council of the School of Medicine, University of Minho
2016 - Current Member of the Inter-Ministerial Committee for an Integrated Strategy for Rare Diseases (including the Portuguese Ministries of Health, Education, Social Security and Science and Higher Education)
Member
2002 - Current Member of the scientific and pedagogic council, School of Medicine, University of Minho
Member
 Universidade do Minho Escola de Medicina, Portugal
2002 - Current Member of the Committee of "Biological and Biomedical Sciences" Scientific Area
Member
 Universidade do Minho Escola de Medicina, Portugal
2014 - 2018 Coordinator - International Programme of Post-Graduate Courses - ICVS/School of Medicine
Coordinator
 Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2010 - 2012 Coordinator - International Programme of Post-Graduate Courses - ICVS/School of Medicine
Coordinator
 Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2008 - 2012 Coordinator of Molecular Diagnostic Services - ICVS
Coordinator
 Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2007 - 2010 Member of the Scientific Committee of the Portuguese Society for Human Genetics
Member
2008 - 2009 Member of the Coordinating Committee of the School of Health Sciences Scientific Council (elected on behalf of doctorates in the scientific area of Biological and Biomedical Sciences)
Member
 Universidade do Minho Escola de Medicina, Portugal
2002 - 2009 Sistemas Orgânicos e Funcionais III, módulo "Sistema Nervoso II" - Curso de Medicina
Coordinator
 Universidade do Minho Escola de Medicina, Portugal
2001 - 2002 Associate Director of Molecular Biology section at Centro de Genética Clínica (CGC Genetics)
Director

Consulting

Activity description Institution / Organization
2013 - 2015 Consultant of the project: Identifying Molecular Endpoints for Machado-Joseph disease (MJD/SCA3): evaluation of transcriptional candidate biomarkers in peripheral blood. (Fundação para a Ciência e Tecnologia; PTDC/DTP-PIC/0370/2012). PI: Manuela Lima, I3S (Universidade do Porto)/Universidade dos Açores.
2010 - 2013 Consultant of the project: Inhibited and indiscriminate attachment disordered behaviours in institutionally-reared children: a multilevel comparison with autism spectrum disorders and Williams syndrome. Funded by Fundação para a Ciência e Tecnologia, PTDC/PSI-PCL/101506/2008. PI: Isabel Soares, University of Minho.
1998 - 2001 Molecular diagnosis of neurodegenerative diseases at UnIGEne Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2021 - Current Research Methodologies Postgraduate Course (Outros) Universidade do Minho Escola de Medicina, Portugal
2015 - Current Genética Humana e Doença (Curso de doutoramento (conclusão de unidades curriculares)) Universidade do Porto Faculdade de Medicina, Portugal
2003 - Current Biopatologia e Introdução à Terapêutica Medicine Universidade do Minho Escola de Medicina, Portugal
2003 - Current Domínios Verticais Medicine Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2002 - Current Sistemas Orgânicos e Funcionais I Medicine Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2002 - Current Sistemas Orgânicos e Funcionais II Medicine Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2002 - Current Sistemas Orgânicos e Funcionais III Medicine Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2016 - 2017 Métodos e Técnicas de Investigação Universidade de Coimbra Faculdade de Medicina, Portugal
2014 - 2017 Neurodegenerative diseases: finding a common ground PhD and Master in Health Sciences and Interuniversity PhD Program in Aging and Chronic Diseases Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2011 - 2017 Fundamentos da Medicina Medicine Universidade do Minho Escola de Medicina, Portugal
2011 - 2017 Neurodegeneration Graduate Program in Basic and Applied Biology Universidade do Porto, Portugal
2006 - 2017 Genética Humana e Doença Doctoral Programs in Molecular Medicine and Oncology (FMUP), Pathology and Molecular Genetics (FMUP / ICBAS), Biomedicine (FMUP)
2015 - 2016 Neuroscience and Mental Health: a clinical and molecular perspective PhD in "Health Sciences" Universidade de Coimbra Faculdade de Medicina, Portugal
2006 - 2016 Fundamentals of Genetics, Development and Neoplasia Post-graduation courses Universidade do Minho Escola de Medicina, Portugal
2015/06/25 - 2015/06/27 Post-graduation course "Genetics of Intellectual disability: an update" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2007 - 2015 Fundamentals of Neuroscience Post-graduation courses Universidade do Minho Escola de Medicina, Portugal
2013/07/08 - 2013/07/10 Post-graduation course: The nematode C. elegans: a model for biomedical research - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2013/07/04 - 2013/07/08 Post-graduation course "Intellectual disability: from clinic to gene and back (3rd Edition)" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2013/06/17 - 2013/06/21 Post-graduation course "Next-Generation sequencing: principles and applications"- Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2013 - 2013 Treat PolyQ Initial Training Network Initial Training Network
2012 - 2013 Neurobiology and Disease Doctoral Program in Health Sciences and Doctoral Program in Neurobiology and Disease Universidade de Coimbra Faculdade de Medicina, Portugal
2011 - 2012 Neurobiology and Disease Interuniversity Doctoral Program in Aging and Degeneration of Complex Biological Systems
2011 - 2012 Neurodegenerative diseases: From molecules to clinics and beyond Doctoral Program in Experimental Biology and Biomedicine Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2005 - 2012 Projeto de Opção, Estágio Final - Medicine Degree Universidade do Minho Escola de Medicina, Portugal
2011/07/04 - 2011/07/08 Post-graduation course "Mental retardation: from clinic to gene and back (2nd Edition)" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2011/06/15 - 2011/06/17 Post-graduation course "Obesity and metabolic syndrome: an update" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2011/04/11 - 2011/04/21 Post-graduation course "Methods of DNA analysis: state of the art (2nd edition)" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2011/04/11 - 2011/04/21 Post-graduation course “Methods of DNA analysis: state of the art (2nd edition)”- Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2010 - 2011 Neurodegenerative disorders – Clinical and neuropathological aspects Doctoral Program in Experimental Biology and Biomedicine Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2008 - 2011 Clínica à Biologia Molecular Medicine Universidade do Minho Escola de Medicina, Portugal
2010/05/17 - 2010/05/28 Post-graduation course "Methods of DNA analysis: state of the art" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2009 - 2010 Neurodegenerative disorders Doctoral Program in Experimental Biology and Biomedicine Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2006 - 2009 Fundamentos de Sistemas do Corpo Humano Nursing Universidade do Minho Escola Superior de Enfermagem, Portugal
2008/09/01 - 2008/09/10 Post-graduation course “Course on Laboratory Animal Science (4th edition)”- Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2006 - 2008 Genética e Psiquiatria Master's Program in Psychiatry and Mental Health Universidade do Porto, Portugal
2007/09/03 - 2007/09/14 Post-graduation course "Course on Laboratory Animal Science (3rd edition)" - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2006/09/04 - 2006/09/15 Post-graduation course “Course on Laboratory Animal Science (2nd edition)” - Organizer and Lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2006/07/03 - 2006/07/04 Post-graduation course “Mental retardation: from clinic to gene and back” - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2006 - 2006 Post-graduation course "Laboratory Animal Science" - Organizer and lecturer Post-graduation courses Universidade do Minho Escola de Medicina, Portugal
2005 - 2006 Neurodegenerative disorders – Polyglutamine expansion diseases Doctoral Program in Experimental Biology and Biomedicine Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2005/09/08 - 2005/09/10 Post-graduation course “Multiple Sclerosis: evaluation, management and rehabilitation of cognitive deficits”- Organizer and Lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2004/08/30 - 2004/09/10 Post-graduation course “Laboratory Animal Science” - Organizer and lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2004/07/17 - 2004/07/24 Post-graduation course “Genes and neurons” - Organizer and Lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2004/05/24 - 2004/05/27 Post-graduation course “Microarrays: Principles and applications in Medicine"- Organizer and Lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2004/02/25 - 2004/02/27 Post-graduation course “The nematode C. elegans: a model for teaching and research in Biology" - Organizer and Lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2003 - 2004 Projeto de Opção IV Medicine Universidade do Minho Escola de Medicina, Portugal
2002 - 2004 Genetic Epidemiology Graduate Program in Basic and Applied Biology Universidade do Porto, Portugal
2003/12/01 - 2003/12/05 Post-graduation course “Finding genes for human disease: from genetics to genomics"- Organizer and Lecturer Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2002/05/13 - 2002/05/20 Post-graduation course “Human disease gene mapping” - Organizer and Lecturer Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2001/05/21 - 2001/05/26 Post-graduation course “Human disease gene mapping”- Organizer and Lecturer Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
1999 - 2001 Biotechnology - Bachelor's Degree in Pharmaceutical Sciences Instituto Universitário de Ciências da Saúde, Portugal
1997 - 2001 General and Orofacial Genetics - Degree in Dentistry Instituto Universitário de Ciências da Saúde, Portugal
1997 - 2001 Basic Genetics - Clinical Psychology Degree Course Instituto Universitário de Ciências da Saúde, Portugal
1997 - 2001 Basic Genetics - Pharmaceutical Sciences Degree Course Instituto Universitário de Ciências da Saúde, Portugal
1997 - 2001 Basic Genetics - Physical Education, Health and Sports Degree Course Instituto Universitário de Ciências da Saúde, Portugal
1999/06/17 - 1999/06/24 Post graduation course “Genetic Epidemiology and its application to common diseases” - Organizer and Lecturer Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Interview (newspaper / magazine)

Activity description Newspaper / Forum
2023/03/30 "Screen4Health vence o SpinUM 2023" TecMinho
2021/06 "À Conversa com a Professora Doutora Patrícia Maciel" - Interview with SPDMov about career and research in movement disorders Sociedade Portuguesa de Doenças do Movimento (SPDMov)
2018/04/13 "Substância vulgar atrasa doença de Machado-Joseph em ratinhos" - Interview about research in the context of Machado-Joseph Disease. Público
2018/04/10 "Investigadores da UMinho conseguem atrasar progressão da doença de Machado-Joseph" - Interview about research in the context of Machado-Joseph Disease Correio do Minho
2018/04/10 "Investigadores atrasam progressão da doença de Machado-Joseph em animais" - Communication about research in the context of Machado-Joseph Disease SAPO Lifestyle
2018/04/10 "Investigadores conseguem atrasar progressão da doença de Machado-Joseph em animais" - Communication about research in the context of Machado-Joseph Disease TSF - Rádio Notícias
2018/04/10 "Investigação da UMinho atrasa progressão da doença de Machado-Joseph em animais" - Communication about research in the context of Machado-Joseph Disease O Minho
2018/04/10 "Investigadores conseguem atrasar progressão da doença de Machado-Joseph em animais" - Communication about research in the context of Machado-Joseph Disease Diário de Notícias
2015/03 Interview about research for Machado-Joseph Disease Jornal 123
2014/06/05 "Uma doença rara e sem cura com grande incidência na zona da Chamusca" - Interview about Machado-Joseph Disease. O Mirante
2014 "UMinho identifica fármaco que previne a doença de Machado-Joseph" - Communication about research in the context of Machado-Joseph Disease. Gabinete de Comunicação, Informação e Imagem da Universidade do Minho
2011/05/29 "Investigadores da UMinho encontram forma de retardar o aparecimento da doença de Machado-Joseph" - Communication on research work in the context of Machado-Joseph Disease. UMdicas/SASUM - Academic News

Interview (tv / radio show)

Program Topic
2022/05/19 - 2022/05/19 Podcast "UMinho I & D" | Interview with Patricia Maciel: "Chama-se TUDCA, é uma molécula natural produzida pelo corpo humano, e pode ser a esperança para vários pacientes que sofrem da doença rara Machado-Joseph." Scientific Research at University of Minho
2019/11/05 - 2019/11/05 "Mentes que Brilham" Interview about research in the context of Machado-Joseph Disease
2018/07/16 - 2018/07/16 "90 Segundos de Ciência" Interview about research in the context of Machado-Joseph Disease
2015/10/14 - 2015/10/14 Podcast "UMinho I & D" | Interview with Patrícia Maciel about research performed in the context of Machado-Joseph Disease Scientific Research at University of Minho
2015 - 2015 RTP3 Machado-Joseph disease researcher + comment day news
2014/03/13 - 2014/03/13 "Jornal da Tarde - RTP1": "Novo fármaco previne doença de Machado-Joseph". Interview about research in the context of Machado-Joseph Disease
Distinctions

Award

2024 Best Oral Communication | "Enhancing animal welfare and research accuracy with DVC®: A study on non-intrusive monitoring of rodent behaviorand activity", received by Daniela Monteiro-Fernandes, in "V SPACL Meeting"
Sociedade Portuguesa de Ciências em Animais de Laboratório, Portugal
2023 Best Idea of Business "Screen4Health" (1st Prize), received by Joana Pereira-Sousa, in the Entrepreneurship Contest of SpinUM
TecMinho Associação Universidade-Empresa para o Desenvolvimento, Portugal
2023 Prize with the idea "Screen4Health" (3rd Place), in the "UI-CAN Empreende@Universidade" contest, received by Joana Pereira-Sousa
2021 Best Poster Award (1st prize) | "A comprehensive characterization of the cerebellar (dys)function in Spinocerebellar Ataxia Type 3", received by Ana Catarina Ferreira, in "XIII National Meeting of Biochemistry Students (ENEBIOQ)"
2021 Best Neuroscience Poster Award | "Does activation of serotonergic treatment suppress proteotoxicity in mouse models of neurodegenerative diseases?", received by André Vidinha-Mira, in "16th Young European Scientist (YES) Meeting"
Universidade do Porto Faculdade de Medicina, Portugal
2019 Best Poster Award | "A Glucorticoidreceptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease", received by Sara Silva, in "European Behavioral Pharmacology Society Meeting"
2019 Best Poster "Using luciferase mutants to study the impact of serotonergic signaling modulation of proteostasis in C. elegans", received by Bruna Lomba, in Workshop on "Strategies & tools for modulating pathologic protein self-assembly in proteinopathies"
2013 Best Oral Communication in Basic Research | "A whole organism screen identifies serotonergic signaling as modulator of Machado-Joseph disease pathogenesis", received by Ana Jalles, in "17th Portuguese Society of Human Genetics"
Sociedade Portuguesa de Genética Humana, Portugal
2010 3rd Prize CGC Genetics for the work "Clinical and Genetic study of Rett Syndrome in Portugal"
CGC Genetics Inc, United States
2010 Rafael Hervada International Prize for Biomedical Research
Rafael Hervada Foundation, Spain
2008 Amélia Mello Prize - Honorary mention for the work "Clinical and Genetic study of Rett Syndrome in Portugal"
José de Mello Saúde, Portugal
2006 Prémio Bial - Honorary mention for the work "Autism in Portugal. Epidemiology, Genetic and Molecular Research"
Fundação Bial, Portugal
2003 SERONO Prize - for the work "Genetic of Multiple Sclerosis"
Sociedade Portuguesa de Neurologia, Portugal
2001 Prize for the work “Animal models for the study of Machado-Joseph disease” (Prémio de Estímulo à Investigação fundação Calouste Gulbenkian)
Fundação Calouste Gulbenkian, Portugal
1998 Prize for the best Genetics thesis dissertation of the year: “Molecular Genetics of Machado Joseph disease"
Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
1988 Best Student in Highschool
Junta de Freguesia do Bonfim, Portugal

Other distinction

1988 Award by Calouste Gulbenkian Foundation to participate in the London International Youth Science Fortnight
Fundação Calouste Gulbenkian, Portugal