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My scientific and curricular path demonstrates my expertise in the field of Neuroscience, particularly on Neurogenetics area. My interest and curiosity in the molecular and biological basis of human diseases started very early in life, and even before finishing my Biochemistry degree in 1990, I developed a research project in the Genetics Department of Lisbon University. At that time, I also had my first research experience abroad in the Nuclear Physics Institute in Julich, where I understood how important it was gain hands-on experience in a different scientific environment. Since then, I have been self-motivated and determined to pursue a research career in human genetics. Thus, I completed my Master¿s degree in 1994 in Cell Biology, after an internship in the Mount Sinai Hospital, Toronto, Canada. After developing an EC funded project, under the Genome Analysis Program, I was recognized a specialist in Genetics by the Ministry of Health in Portugal in 1997. Afterwards, I moved to UK to do my PhD in Human genetics, which I completed in 2001 at the Faculty of Medicine of Newcastle University. As part of my PhD, I worked in the Institute of Pathology in Düsseldorf and also in the Human Genetics Institute in Leiden. Then, I did a postdoc at Leicester University, developing yeast-based assays to evaluate the functional analysis of mismatch repair genes involved in colorectal cancers. In 2003, I became Research Associate at Newcastle University where I stayed until returned to Portugal in 2004 to set up and coordinate the lab of the inherited diseases unit in GenoMed at IMM in Lisbon. In 2009, I moved to Coimbra and joined CNC (partner of the CIBB), first as an FCT-investigator in Human Genetics (2009) when I became the head of the Neurogenetics laboratory, and later as Invited Scientist (2014), in the CIBB¿s group of Biomarkers in Neuropsychiatric Disorders within the thematic line: Neuroscience & Disease. Thus, since 2009 I have been coordinating the Neurogenetics Laboratory in both its diagnostic and scientific research areas, in a close collaboration with CHUC¿s Neurology Service. With the genetic and genomic advances, I set up in the lab, a systematic stepwise approach, using Next-generation sequencing technology with subsequent development of custom bioinformatics pipelines for processing sequencing data. My capability to establish collaborative research, both at national and international level, led to several network collaborations, some within consortia, European Early-Onset Dementia (EU-EOD (as Coordinator of the Coimbra node) and Genetic Frontotemporal dementia Initiative (GENFI) (as Genetic guardian). In 2015, I became a Clinical Laboratory Geneticist (CLG) by the European Board of Medical Genetics, (title renewed in 2020), which consolidated my expertise as a human genetics¿ specialist. Since 2019 I have been invited to lecture in the European Course for CLGs in education, organized by the European Society of Human Genetics (ESHG). The recognition of my expertise is also patent in invitations to peer review research projects, articles for several scientific journals, and join the editorial board of Alzheimer disease and related dementias. In 2024, I was appointed as an Assistant research at CNC. Over the years, I attracted research funds at national (FCT and Patients Portuguese societies) and international level (The Michael J. FOX Foundation, UCL, Takeda Pharmaceutical Company) being in 2020 awarded of a FCT funding of 250.000¿, as Principal Investigator. Moreover, since I have been in UC, I supervised lab rotations (>20) of undergraduate students and postgraduate students, (>10 Master and 1 PhD), lectured in MSc and PhD programs and I was invited speaker in national and international courses. I was also involved in several outreach activities organized by UC and participated in patients associations. I have published 109 articles (>2300 citations) (Web of Science).
Identification

Personal identification

Full name
Maria do Rosário Pires Maia Neves de Almeida

Citation names

  • Almeida, Maria Rosário

Author identifiers

Ciência ID
511D-162F-AE5C
ORCID iD
0000-0002-1889-5469

Email addresses

  • mralmeida@cnc.uc.pt (Professional)

Websites

  • https://www.cibb.uc.pt (Professional)

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Neurosciences

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Spanish; Castilian Intermediate (B1) Advanced (C1) Elementary (A2) Upper intermediate (B2)
French Intermediate (B1) Upper intermediate (B2) Elementary (A2) Upper intermediate (B2)
Education
Degree Classification
2020
Concluded
Clinical Laboratory Geneticist (CLG) (Título de especialista)
Major in four domains, cytogenetics, molecular genetics, tumor genetics and biochemical Genetics
European Board of Medical Genetics, United Kingdom
Approved
2015
Concluded
Clinical Laboratory Geneticist (CLG) (Título de especialista)
Major in four domains, cytogenetics, molecular genetics, tumor genetics and biochemical Genetics
European Board of Medical Genetics, United Kingdom
Approved
2001/12/05
Concluded
PhD in Human Genetics (Doutoramento)
Faculty of Medicine, Newcastle University, United Kingdom
"Molecular Diagnosis of Hereditary Non Polyposis Colon Cancer and Sporadic Mismatch Repair Deficient Colorectal Tumours" (THESIS/DISSERTATION)
Approved
1994
Concluded
MSc in Cellular Biology (Mestrado)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Contribution of molecular studies in Familial Adenomatous polyposis in Portuguese families" (THESIS/DISSERTATION)
Good
1990
Concluded
Biochemistry Degree (Licenciatura)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Molecular Diagnosis of Familial Adenomatous Polyposis patients" (THESIS/DISSERTATION)
Affiliation

Others

Category
Host institution
Employer
2024/01/01 - 2028/12/31 Research Assistant Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/03/31 - 2023/12/31 Investigator and Head of the Neurogenetics Laboratory Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
2017/05/01 - 2020/12/31 Invited Scientist (Grant) and Head of the Neurogenetics Laboratory (CNC) Universidade de Coimbra, Portugal
2020/03/01 - 2020/06/01 Team Leader and Coordination Team Member of the Laboratory of Clinical Analysis to diagnosis Covid-19 Universidade de Coimbra Faculdade de Farmácia, Portugal
Universidade de Coimbra, Portugal
2014/05/01 - 2017/04/30 Invited Scientist (Grant) and Head of the Neurogenetics Laboratory (CNC) Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
2009/04/01 - 2014/04/30 Research Assistant and Head of Neurogenetics Laboratory (CNC) Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
2004/02/01 - 2008/01/31 Responsible for the Genetic tests Unit on hereditary diseases GenoMed, Molecular Medicine Diagnosis, SA Institute of Molecular Medicine, Lisbon, Portugal
2003/01/01 - 2003/12/31 Research Associate Northern Genetics Knowledge Park Institute of Human Genetics University of Newcastle, United Kingdom
2001/12/01 - 2002/12/31 Post-Doctoral Research Associate Project “Establishment of a functional assay for missense mutations in mismatch repair genes” Funded by Newcastle University Hospital Trust University of Newcastle and University of Leicester, United Kingdom
2001/04/01 - 2001/11/30 First appointed as Medical Technical Officer Grade 2 (temporary appointment) and later appointed as Post-Doctoral Research Associate Northern Genetics Knowledge Park Institute of Human Genetics University of Newcastle, United Kingdom
1997/01/01 - 2001/03/31 PhD student Thesis “Molecular Diagnosis of Hereditary Non Polyposis Colon Cancer and Sporadic Mismatch Repair Deficient Colorectal Tumours” Human Molecular Genetics Unit, School of Biochemistry and Genetics, Faculty of Medicine, University of Newcastle, United Kingdom
1995/01/01 - 1996/12/31 Post-Graduate Research Associate on EC funded project GENE-CT93-0032 “Genome Analysis Programme” University of Lisbon, Medical School, Genetics Department , Portugal
1992/01/01 - 1994/12/31 Two Year MSc student Thesis “Contribution of molecular studies in Familial Adenomatous polyposis in Portuguese families” University of Coimbra, Faculty of Science and Technology, Portugal
1991/01/01 - 1991/12/31 Post-Graduate Research Associate on EC funded Radiation Protection Programme “Radiation Protection” University of Lisbon, Medical School, Genetics Department , Portugal
1988/01/01 - 1990/12/31 Two Year project student Thesis “DNA damage in human cells of syndromes with oxygen reactive species overproduction” University of Lisbon, Medical School, Genetics Department , Portugal
Projects

Grant

Designation Funders
2017/06/01 - 2020/10/01 MEDPERSYST: Synaptic networks and Personalized Medicine Approaches to Understand Neurobehavioural Diseases Across the Lifespan
SAICTPAC/0010/2015
POCI-01-0145-FEDER-016428
Universidade do Minho, Portugal

Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal

Universidade de Aveiro, Portugal

FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal

Universidade de Coimbra, Portugal

Universidade de Coimbra Instituto de Ciências Nucleares Aplicadas à Saúde, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2016 - 2017 Clinical and molecular characterization of patients with Paragangliomas of the Carotid Body with a view improved diagnosis and prognosis
Ref.SPACV2016
Researcher
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
Portuguese Society of Angiology and Vascular Surgery (SPACV)
Concluded
2015 - 2016 Exploring Lysosomal dysfunction in Neuronal Ceroid Lipofuscinosis
Ref.SPDM/Genzyme2015
Researcher
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
Portuguese Society of Metabolic disorders (SPDM)
Concluded

Contract

Designation Funders
2015 - Current Understanding the Initial Phases of Genetic Frontotemporal Lobar Degeneration - Setting the Stage for Prevention Trials
Ref.GENFI2
Genetic Guardian
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
University College London (UCL)
Ongoing
2022/01 - 2024/12 Human Neuronal Cells Differentiated from Urine-derived Stem Cells as a Platform for Personalized Medicine in Amyotrophic Lateral Sclerosis
PTDC/BTM-ORG/0055/2021
Fundação para a Ciência e a Tecnologia
2021/01/01 - 2023/12/31 Disease modelling of frontotemporal dementia in human brain organoids
PTDC/MEC-NEU/4814/2020
Principal investigator
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

CNC.IBILI, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/03/01 - 2022/03/31 Exploring the Immunogenetics of FTD using advanced human brain organoid models
E119
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Takeda Pharmaceutical Company Limited
Ongoing
2012/06/01 - 2015/05/31 BIOMARKAPD: Biomarkers for Alzheimer's disease and Parkinson's disease
JPND/0005/2011
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Centro Hospitalar e Universitário de Coimbra EPE, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010/04/01 - 2014/03/30 Comprehensive analysis of rod-cone photoreceptor degeneration associated with rhodopsin mutations
E-Rare2/SAU/0001/2008
Researcher
Universidade de Coimbra, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2011 - 2014 LRRK2 role on auto-antibody production by human B cells
Principal investigator
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
The Michael J. FOX Foundation for Parkinson´s Research
Concluded
2012 - 2012 Défices Cognitivos na Doença de Parkinson: Evolução e Factores Preditivos em Doentes Tratados com Cirurgia Funcional de Estimulação Cerebral Profunda
Ref.CHSJ2012
Researcher
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
Centro Hospitalar Universitário de São João
Outputs

Publications

Book chapter
  1. Almeida MR; Oliveira C. "Alterações Genéticas". edited by Lidel, 40-59. 2013.
Conference abstract
  1. Almeida, Maria Rosário; Tábuas-Pereira, Miguel; Durães, João; Lima, Marisa; Baldeiras, Ines; Santana, Isabel. "Mutation spectrum of a dementia patients cohort: Experience from Coimbra center in Portugal". Paper presented in AGEINGCONGRESS, Leiria, 2023.
    Published
  2. Bernardes, Catarina; Faustino, Pedro; Durães, João; Lima, Marisa; Duro, Diana; Silva-Spínola, Anuschka; Leitão, Maria João; et al. "Development of seizures reduces survival in patients with Alzheimer's Disease". Paper presented in 8th Congress of the European Academy of Neurology, Viena, 2022.
    Published
  3. Ferreira, Catarina; Maruta, Carolina; Verdelho, Ana; Miltenberger-Miltenyi, Gabriel; de Mendonça, Alexandre; Taipa, Ricardo; Jorge, Lidia; et al. "Genetic Frontotemporal Dementia Initiative (GENFI): Clinical Trials". Paper presented in 33ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Coimbra, 2020.
    Published
  4. Lima, M.; Baldeiras, I; Almeida, Maria Rosário; Pereira, M.; Duro, D.; Gomes, I.; Santana, I.. "Memory impairment in FTD patients with pathogenic mutations". Paper presented in 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Published
  5. Machado, R.; Almendra, L.; Fernandes, C.; Galego, O.; Almeida, Maria Rosário; Baldeiras, I.; Silva, A. R.; Negrao, L.; Santo, G.. "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): neuromuscular characterization". Paper presented in 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Published
  6. Sousa Fernandes, C.; Gens, H.; Machado, R.; Silva, A. R.; Baldeiras, I.; Almeida, Maria Rosário; Santo, G.. "COL4A2 gene mutations as cause of cerebral small vessel disease, hemorrhagic stroke and intracranial vessels dolichoectasia". Paper presented in 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Published
  7. Sousa M.; Cunha, I.; Soeiro, P.; Silva, R.; Cunha, MJ; Oliveira, F.; Almeida, Maria Rosário; Morgadinho AS.; Januario, C.. "Dopaminergic Neuronal Imaging in Parkinson's disease parkin mutation patients and potential pathophysiologic insights of simple heterozygous patients: A clinical DAT-SPECT study". Paper presented in Annual Meeting of the American-Academy-of-Neurology, 2020.
    Published
  8. Carneiro, D.; Tabuas Pereira, M.; Beato-Coelho, J.; Varela, R.; Sousa Fernandes, C.; Almeida, Maria Rosário; Santo, G.. "Psychiatric features of CADASIL: a pilot case-control study". Paper presented in 5th Congress of the European-Academy-of-Neurology (EAN), 2019.
    Published
  9. Almeida, Maria Rosário. "C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease". 2019.
  10. Ramos-Lopes, Joana; Tábuas-Pereira, Miguel; Durães, João; Sales, Francisco; Bento, Conceição; Duro, Diana; Santiago, Beatriz; et al. "Aumento da proteína tau no LCR e risco de crises convulsivas na Doença de Alzheimer". Paper presented in Congresso de Neurologia 2018, Porto, 2018.
    Published
  11. Lima, C.; Novo, A.; Sousa, M.; Almeida, Maria Rosário; Morgadinho, A.; Januario, C.. "Early-onset Parkinson's disease in seven patients with heterozygosity for parkin mutation". Paper presented in International Congress of Parkinson's Disease and Movement Disorders, 2018.
    Published
  12. Almeida, M. R.; Tabuas-Pereira, M.; Santos, A.; Ribeiro, M. H.; Santiago, B.; Guerreiro, R.; Oliveira, C.; Santana, I.. "Genetic analysis of a dementia patients' cohort: experience from Coimbra center in Portugal". 2018.
    Published
  13. Almendra, L.; Almeida, M. R.; Duraes, J.; Valente, A. M. P.; Santiago, Hbmc; Negrao, L.; Geraldo, A.; Santana, I.. "Increased risk of melanoma in c9orf72 expansion carriers". 2018.
    Published
  14. Ribeiro, J. A.; Moreira, F.; Beato-Coelho, J.; Morgadinho, A. S.; Almeida, M. R.; Januario, C.. "Two cases of Parkinsonism with atypical genetics". 2016.
    Published
  15. Parra, Joana; Tábuas-Pereira, Miguel; Duro, Diana; Almeida, Maria Rosário; Santana, Isabel. "Mutação no gene C9orf72 como Demência com Corpos de Lewy". Paper presented in Congresso de Neurologia, Lisboa, 2015.
    Published
  16. Durães, João; Santiago, Beatriz; Duro, Diana; Machado, C; Almeida, Maria Rosário; Santana, Isabel. "Avaliação fenotípica de portadores e famílias com mutações no gene da progranulina no espectro da Degenerescência Lobar Fronto-Temporal". Paper presented in Fórum de Neurologia, Aveiro, 2015.
    Published
  17. Guedes, Joana R; Santana, Isabel; Cunha, Catarina; Duro, Diana; Almeida, Maria Rosário; Cardoso, Ana M; de Lima, Maria C. Pedroso; Cardoso, Ana Luísa. "Molecular and phenotypic alterations in the mononuclear phagocyte system from Alzheimer's disease patients". Paper presented in 29ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Aveiro, 2015.
    Published
  18. Santana, Isabel; Baldeiras, Inês; Leitão, Maria João; Ribeiro, Maria Helena; Pascoal, Rui; Duro, Diana; Santiago, Beatriz; Almeida, Maria Rosário; Oliveira, Catarina Resende. "Biomarcadores do LCR no diagnóstico de formas esporádicas e genéticas da Degenerescência Lobar Fronto-Temporal". Paper presented in Congresso de Neurologia, Lisboa, 2014.
    Published
  19. Varanda, Sara; Almeida, Maria Rosário; Ribeiro, Maria Helena; Duro, Diana; Baldeiras, Inês; Cunha, Gil; Santiago, Beatriz; Santana, Isabel. "Mutações no C9orf72 que se manifestam como Defeito Cognitivo Ligeiro Amnésico". Paper presented in 28ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Aveiro, 2014.
    Published
  20. Santana, Isabel; Cordeiro, Gustavo; Maduro, Ana; Letra, Liliana; Baldeiras, Inês; Ribeiro, Maria Helena; Rebelo, Olinda; Melo Pires, Manuel; Almeida, Maria Rosário. "Fatal familial insomnia (FFI) - a case study with a challenging diagnosis". Paper presented in Neuro 2012, Porto, 2012.
    Published
  21. Morgadinho, A.; Almeida, M. R.; Coutinho, P.. "G2019S mutation is a very important cause of Parkinson's disease in Portugal". 2010.
    Published
Conference poster
  1. Coelho, Mariana; Almeida, Maria Rosário; Lima, Marisa; Baldeiras, Ines; Durães, João; Santana, Isabel; Tábuas-Pereira, Miguel. "Expansão do C9orf72 com 23 repeats associada a demência Frontotemporal ¿ Afasia Primária Progressiva". Paper presented in 37ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2023.
  2. Baldeiras, Ines; Durães, João; Silva-Spínola, Anuschka; Leitão, Maria João; Tábuas-Pereira, Miguel; Duro, Diana; Almeida, Maria Rosário; Santana, Isabel. "Cerebrospinal fluid neurofilament light chain levels in Frontotemporal Lobar Degeneration: Genetic and phenotypic associations". Paper presented in 14th International Conference in Alzheimer's & Parkinson's Disease, 2019.
  3. Cardoso, R; Almeida, Maria Rosário; Baldeiras, Inês; Pereira, Cláudia Fragão; Oliveiros, Bárbara; Santana, Isabel; Oliveira, Catarina Resende. "Association between TOMM40 poly-T repeat variants and risk of mild cognitive impairment conversion to Alzheime's disease". Paper presented in 21st Annual Meeting -Sociedade Portuguesa de Genética Humana, 2017.
  4. Castelo-Branco, Miguel; Ferreira, Sónia; Carvalho Pereira, Andreia; Quendera, Bruno Alexandre Pais; Mateus, Catarina; Almeida, Maria Rosário; Silva, Eduardo Duarte. "Evidence for structural and functional reorganization of visual retinotopic and high level regions in a human model of genetically determined peripheral visual loss". Paper presented in SFN, 2014.
  5. Carvalho Pereira, Andreia; Ferreira, Sónia; Quendera, Bruno Alexandre Pais; Mateus, Catarina; Almeida, Maria Rosário; Silva, Eduardo Duarte; Castelo-Branco, Miguel. "Cortical alterations due to peripheral visual loss in Retinitis Pigmentosa". Paper presented in SPN meeting, 2013.
  6. Ferreira, Sónia; Pereira, Andreia C; Quendera, Bruno; Mateus, Catarina; Almeida, Maria Rosário; Silva, Eduardo; Castelo-Branco, Miguel. "Peripheral Vision Loss and Visual Cortical Organization in Retinitis Pigmentosa". Paper presented in XIII Meeting of the Portuguese Society for Neurosciences, 2013.
  7. Carvalho Pereira, Andreia; Mateus, Catarina; Reis, Aldina; Quendera, Bruno Alexandre Pais; Ferreira, Sónia; Almeida, Maria Rosário; Silva, Eduardo Duarte; Castelo-Branco, Miguel. "Phenotypic characterization in two patients with identified rhodopsin gene mutation: impact of retinal degeneration on cortical structure". Paper presented in ARVO congress, 2012.
  8. Ferreira, Sónia; Carvalho Pereira, Andreia; Mateus, Catarina; Reis, Aldina; Quendera, Bruno Alexandre Pais; Almeida, Maria Rosário; Silva, Eduardo Duarte; Castelo-Branco, Miguel. "Influence of retinal dystrophy on brain cortex structure in retinitis pigmentosa". Paper presented in ESMRMB congress, 2012.
Journal article
  1. Linnemann, Christoph; Wilke, Carlo; Mengel, David; Zetterberg, Henrik; Heller, Carolin; Kuhle, Jens; Bouzigues, Arabella; et al. "NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study". Journal of Neurology, Neurosurgery & Psychiatry (2024): jnnp-2023. http://dx.doi.org/10.1136/jnnp-2023-332464.
    10.1136/jnnp-2023-332464
  2. Benussi, Alberto; Premi, Enrico; Grassi, Mario; Alberici, Antonella; Cantoni, Valentina; Gazzina, Stefano; Archetti, Silvana; et al. "Diagnostic accuracy of research criteria for prodromal frontotemporal dementia". Alzheimer's Research & Therapy 16 1 (2024): http://dx.doi.org/10.1186/s13195-024-01383-1.
    10.1186/s13195-024-01383-1
  3. Almeida, Maria Rosário; Tábuas-Pereira, Miguel; Baldeiras, Inês; Lima, M; Durães, João; Massano, João; Pinto, Madalena; Cruto, Catarina; Santana, Isabel. "Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia". International Journal of Molecular Sciences 25 1 (2023): 511. http://dx.doi.org/10.3390/ijms25010511.
    Published • 10.3390/ijms25010511
  4. Ullgren, Abbe; Öijerstedt, Linn; Olofsson, Jennie; Bergström, Sofia; Remnestål, Julia; van Swieten, John C.; Jiskoot, Lize C.; et al. "Altered plasma protein profiles in genetic FTD – a GENFI study". Molecular Neurodegeneration 18 1 (2023): http://dx.doi.org/10.1186/s13024-023-00677-6.
    10.1186/s13024-023-00677-6
  5. Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; et al. "Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort". Journal of the Neurological Sciences 451 (2023): 120711. http://dx.doi.org/10.1016/j.jns.2023.120711.
    10.1016/j.jns.2023.120711
  6. Silva, Cristiana; Durães, João; Lima, Marisa; Pereira, Daniela Jardim; Santana, Isabel; Almeida, Maria Rosário. "Towards a neurocognitive profile in familial cerebral cavernous malformations". Acta Neurologica Belgica (2023): http://dx.doi.org/10.1007/s13760-023-02314-x.
    10.1007/s13760-023-02314-x
  7. Premi, Enrico; Pengo, Marta; Mattioli, Irene; Cantoni, Valentina; Dukart, Juergen; Gasparotti, Roberto; Buratti, Emanuele; et al. "Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study". Neurobiology of Disease 179 (2023): 106068. http://dx.doi.org/10.1016/j.nbd.2023.106068.
    10.1016/j.nbd.2023.106068
  8. Bussy, Aurélie; Levy, Jake P.; Best, Tristin; Patel, Raihaan; Cupo, Lani; Van Langenhove, Tim; Nielsen, Jørgen E.; et al. "Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia". Human Brain Mapping 44 7 (2023): 2684-2700. http://dx.doi.org/10.1002/hbm.26220.
    10.1002/hbm.26220
  9. Bocchetta, Martina; Todd, Emily G; Bouzigues, Arabella; Cash, David M; Nicholas, Jennifer M; Convery, Rhian S; Russell, Lucy L; et al. "Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort". Brain Communications 5 2 (2023): http://dx.doi.org/10.1093/braincomms/fcad061.
    10.1093/braincomms/fcad061
  10. Samra, Kiran; MacDougall, Amy M; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M; Greaves, Caroline V; Convery, Rhian S; et al. "Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia". Brain Communications 5 2 (2023): http://dx.doi.org/10.1093/braincomms/fcad036.
    10.1093/braincomms/fcad036
  11. Samra, Kiran; Macdougall, Amy; Peakman, Georgia; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M; Greaves, Caroline V; et al. "Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales". Journal of Neurology, Neurosurgery & Psychiatry 94 5 (2023): 357-368. http://dx.doi.org/10.1136/jnnp-2022-330152.
    10.1136/jnnp-2022-330152
  12. Silva, Ana Rita; Santos, Irina; Fernandes, Carolina; Silva, Cristiana; Pereira, Daniela; Galego, Orlando; Queiroz, Henrique; et al. "The relevance of the socio-emotional deficits in cerebral small vessels disease (CSVD): An exploratory study with sporadic CSVD and CADASIL patients". Cerebral Circulation - Cognition and Behavior 5 (2023): 100186. http://dx.doi.org/10.1016/j.cccb.2023.100186.
    10.1016/j.cccb.2023.100186
  13. Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; et al. "Language impairment in the genetic forms of behavioural variant frontotemporal dementia". Journal of Neurology 270 4 (2022): 1976-1988. http://dx.doi.org/10.1007/s00415-022-11512-1.
    10.1007/s00415-022-11512-1
  14. Finger, Elizabeth; Malik, Rubina; Bocchetta, Martina; Coleman, Kristy; Graff, Caroline; Borroni, Barbara; Masellis, Mario; et al. "Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers". Brain 146 5 (2022): 2120-2131. http://dx.doi.org/10.1093/brain/awac446.
    10.1093/brain/awac446
  15. Pérez-Millan, Agnès; Borrego-Écija, Sergi; van Swieten, John C.; Jiskoot, Lize; Moreno, Fermin; Laforce, Robert; Graff, Caroline; et al. "Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study". Journal of Neurology 270 3 (2022): 1573-1586. http://dx.doi.org/10.1007/s00415-022-11435-x.
    10.1007/s00415-022-11435-x
  16. Samra, Kiran; MacDougall, Amy M.; Peakman, Georgia; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; et al. "Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales". Journal of Neurology 270 3 (2022): 1466-1477. http://dx.doi.org/10.1007/s00415-022-11442-y.
    10.1007/s00415-022-11442-y
  17. Whiteside, David J.; Malpetti, Maura; Jones, P. Simon; Ghosh, Boyd C. P.; Coyle-Gilchrist, Ian; van Swieten, John C.; Seelaar, Harro; et al. "Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia". Alzheimer's & Dementia 19 5 (2022): 1947-1962. http://dx.doi.org/10.1002/alz.12824.
    10.1002/alz.12824
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  80. De Roeck, A.; Van den Bossche, T.; van der Zee, J.; Verheijen, J.; De Coster, W.; Van Dongen, J.; Dillen, L.; et al. "Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease". Acta Neuropathologica 134 3 (2017): 475-487. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000407931900009&KeyUID=WOS:000407931900009.
    10.1007/s00401-017-1714-x
  81. Gabriel, A. J.; Almeida, M. R.; Ribeiro, M. H.; Duraes, J.; Tabuas-Pereira, M.; Pinheiro, A. C.; Pascoal, R.; Santana, I.; Baldeiras, I.. "Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients". Neuroscience Letters 641 (2017): 101-106. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000394918600017&KeyUID=WOS:000394918600017.
    10.1016/j.neulet.2017.01.036
  82. Carvalho, P.; Matos, A.; Brás, A.; Rebelo, O.; Almendra, L.; Geraldo, A.; Almeida, M.R.; Negrão, L.. "Mcardle disease: Clinical and genetic characterization of patients followed in a portuguese tertiary centre,Doença de McArdle: Caracterização clínica e genética de doentes seguidos num centro português terciário". Sinapse 17 2 (2017): 23-26. http://www.scopus.com/inward/record.url?eid=2-s2.0-85034845335&partnerID=MN8TOARS.
  83. Almeida, M. R.; Letra, L.; Pires, P.; Santos, A.; Rebelo, O.; Guerreiro, R.; van der Zee, J.; Van Broeckhoven, C.; Santana, I.. "Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G(4)C(2)) repeat expansion in C9orf72 gene". Neurobiology of Aging 40 (2016): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000371908400022&KeyUID=WOS:000371908400022.
    10.1016/j.neurobiolaging.2015.12.015
  84. Sassi, C.; Nalls, M. A.; Ridge, P. G.; Gibbs, J. R.; Ding, J. H.; Lupton, M. K.; Troakes, C.; et al. "ABCA7 p.G215S as potential protective factor for Alzheimer's disease". Neurobiology of Aging 46 (2016): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000386973900023&KeyUID=WOS:000386973900023.
    10.1016/j.neurobiolaging.2016.04.004
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    10.1111/gbb.12308
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    10.1016/j.neurobiolaging.2016.02.019
  88. Leitao, M. J.; Baldeiras, I.; Almeida, M. R.; Ribeiro, M. H.; Santos, A. C.; Ribeiro, M.; Tomas, J.; et al. "SPORADIC CREUTZFELDT-JAKOB DISEASE DIAGNOSTIC ACCURACY IS IMPROVED BY A NEW CSF ELISA 14-3-3 gamma ASSAY". Neuroscience 322 (2016): 398-407. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000372349800035&KeyUID=WOS:000372349800035.
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  89. Guedes, J. R.; Santana, I.; Cunha, C.; Duro, D.; Almeida, M. R.; Cardoso, A. M.; de Lima, M. C.; Cardoso, A. L.. "MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's disease". Alzheimers Dement (Amst) 3 (2016): 7-17.
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  90. Arenga, M.; Pereira, M.; Santiago, B.; Baldeiras, I.; Almeida, M.R.; Santana, I.. "Corticobasal syndrome in a dementia outpatient clinic: From clinical phenomenology to etiological diagnosis. Síndrome corticobasal numa consulta de demências: da fenomenologia clínica ao diagnóstico etiológico". Sinapse 16 1 (2016): 18-26. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026801394&partnerID=MN8TOARS.
  91. Luis, E.; Ortiz, A.; Eudave, L.; Ortega-Cubero, S.; Borroni, B.; Van Der Zee, J.; Gazzina, S.; et al. "Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations". Journal of Alzheimer's Disease 53 1 (2016): 303-313. http://www.scopus.com/inward/record.url?eid=2-s2.0-84976411574&partnerID=MN8TOARS.
    10.3233/JAD-160006
  92. Cuyvers, E.; van der Zee, J.; Bettens, K.; Engelborghs, S.; Vandenbulcke, M.; Robberecht, C.; Dillen, L.; et al. "Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study". Neurobiology of Aging 36 5 (2015): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000355100900025&KeyUID=WOS:000355100900025.
    10.1016/j.neurobiolaging.2015.02.014
  93. Baldeiras, I.; Santana, I.; Leitao, M. J.; Ribeiro, M. H.; Pascoal, R.; Duro, D.; Lemos, R.; et al. "Cerebrospinal fluid A beta 40 is similarly reduced in patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease". Journal of the Neurological Sciences 358 1-2 (2015): 308-316. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000365050200049&KeyUID=WOS:000365050200049.
    10.1016/j.jns.2015.09.022
  94. Cacace, R.; Van den Bossche, T.; Engelborghs, S.; Geerts, N.; Laureys, A.; Dillen, L.; Graff, C.; et al. "Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort". Human Mutation 36 12 (2015): 1226-1235. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000364788500015&KeyUID=WOS:000364788500015.
    10.1002/humu.22908
  95. van der Zee, J.; Van Langenhove, T.; Kovacs, G. G.; Dillen, L.; Deschamps, W.; Engelborghs, S.; Matej, R.; et al. "Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration". Acta Neuropathologica 128 3 (2014): 397-410. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000340551900007&KeyUID=WOS:000340551900007.
    10.1007/s00401-014-1298-7
  96. Almeida, M. R.; Baldeiras, I.; Ribeiro, M. H.; Santiago, B.; Machado, C.; Massano, J.; Guimaraes, J.; Resende Oliveira, C.; Santana, I.. "Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort". Neurodegener Dis 13 4 (2014): 214-23.
    10.1159/000352022
  97. van der Zee, J.; Gijselinck, I.; Dillen, L.; Van Langenhove, T.; Theuns, J.; Engelborghs, S.; Philtjens, S.; et al. "A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats". Human Mutation 34 2 (2013): 363-373. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000314477700014&KeyUID=WOS:000314477700014.
    10.1002/humu.22244
  98. Almeida, Maria do Rosário. "Glucocerebrosidase Involvement in Parkinson Disease and Other Synucleinopathies". Frontiers in Neurology 3 (2012): http://dx.doi.org/10.3389/fneur.2012.00065.
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  99. Barbosa, Mafalda; Almeida, Maria do Rosário; Reis-Lima, Margarida; Pinto-Basto, Jorge; dos Santos, Heloísa Gonçalves. "Muenke syndrome with osteochondroma". American Journal of Medical Genetics Part A 149A 2 (2009): 260-261. http://dx.doi.org/10.1002/ajmg.a.32616.
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    10.1111/j.1399-0004.2008.01123.x
  102. Santos, H. G.; Fernandes, H. C.; Nunes, J. L.; Almelda, M. R.. "Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene". Clinical Dysmorphology 18 1 (2009): 41-44. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000262213100008&KeyUID=WOS:000262213100008.
    10.1097/MCD.0b013e32831868ea
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Activities

Oral presentation

Presentation title Event name
Host (Event location)
2020/02/14 The role of genetics in the etiology of Alzheimer disease X National of Clinic Patology
Fundação Cupertino de Miranda (Porto, Portugal)
2019/11/13 Hereditary Ataxias and spastic paraparesis: Disease, Genes, Mutations Congress of the Portuguese Society of Neurology
Hotel Vila Galé (Coimbra, Portugal)
2019/10/12 Early Diagnostic Markers in Dementia - Clinical, Biochemical, Genetic, Neuropsychological and Neuroimaging Approach 33ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, (GEECD)
Hotel Termas da Curia (Curia, Portugal)
2019/10/01 Genetic of Dementias I Congresso de Envelhecimento e Práticas na Demência (CEPD) do Centro de Estimulação para Pessoas com demência (CEPD)
Hotel Rural Vale do Rio (Oliveira de Azemeis, Portugal)
2019/09/12 Genetic Diagnosis of Neurological conditions - case studies European board of medical genetics Course. Basics in Human Genetic Diagnostics; Fourth course for CLGs in education.
Hotel Mercure (Figueira da Foz, Portugal)
2018/11/15 Update on Limb Girdle Dystrophy, Resolving the Unresolved: The Next Genetic Approach Congress of Neurology
(Porto, Portugal)
2018/09/12 Primer design and Nomenclature Theoretical and practical in Cytogenetics and Genomics in the diagnosis and research course (2nd edition)
Faculty of Medicine, University of Coimbra (Coimbra, Portugal)
2018/02/20 Primer design and Nomenclature Theoretical and practical in Cytogenetics and Genomics in the diagnosis and research corse (1st edition)
Faculty of Medicine, University of Coimbra (Portugal)
2016/06/23 Early onset dementia and genetics The EU Joint Programme Neurodegenerative Disease Research (JPND) BIOMARKAPD 2-days Course on Biological markers in Neurological diseases - Present and Future approaches.
University of Coimbra (Coimbra, Portugal)
2015/05/30 Genetic role and genetic counseling principles 29ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências (GEECD)
(Aveiro, Portugal)
2014/06/28 Degenerative dementias with genetic causes and Genetic Counseling 28ª Reunião do Grupo de Estudos Envelhecimento Cerebral e Demências (GEECD)
(Aveiro, Portugal)
2014/06/25 Early diagnosis of degenerative dementias and biomarkers
Faculty of Medicine, University of Coimbra (Coimbra)
2014/04/09 Challenges and Limits of the Molecular Diagnosis of Frontotemporal Lobar Degeneration
Faculty of Medicine (Coimbra, Portugal)
2013/06/12 Who we are and what are our main Research Focus to tackle early onset Dementias. Coimbra Centre Introduction 1st Annual Meeting of the European Early-Onset Dementia (EU-EOD) consortium
(Antwerp, Belgium)

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2022/09/01 - 2023/10/23 Genetic Analysis of Patients with Frontotemporal Dementia and Generation of Induced Pluripotent Stem Cells and Brain Organoids
Supervisor
Faculty of Medicine, University of Coimbra, Portugal
2021/09/21 - 2022/09/21 Characterization Of The Genetic Profile Of Patients With Frontotemporal Lobar Degeneration And Establishment Of Their Fibroblast Cell Lines
Supervisor
Mestrado em Biotecnologia Farmacêutica
Universidade de Coimbra Faculdade de Farmácia, Portugal
2021/09/01 - 2022/09/21 Evaluation of Patients With Neurological Diseases Due to Nucleotide Repeat Expansions
Supervisor
Mestrado em Biotecnologia Farmacêutica (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2019/09/01 - 2020/12/18 Familial multiple osteochondromatosis: literature review regarding a clinical trial
Supervisor of Sara Sofia Bessa Magalhães
Biotecnologia Farmacêutica (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2019/09/01 - 2020/11/12 Evaluation of potential markers for the diagnosis and prognosis of CADASIL patients
Supervisor of Inês Catarina da Fonseca Elias
Biologia Celular e Molecular (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2015/09/01 - 2020/03/05 Avaliação do sistema colinérgico na doença de Alzheimer
Co-supervisor of António José dos Santos Gabriel
PhD Program in Biosciences (PhD)
Faculty of Science and Technology, University of Coimbra, Portugal
2017/03/07 - 2017/11/29 Genotipagem de dois fatores genéticos de risco para a Doença de Alzheimer de inicio tardio, APOE e TREM2
Supervisor of Sónia Patrícia Nogueira Marques
Degree in Biotechnology (Degree)
Instituto Politécnico de Coimbra Escola Superior Agrária de Coimbra, Portugal
2014/09/01 - 2015/09/08 Evaluation of the diagnostic and prognostic value of IDH1 and Progranulin in patients with gliomas
Supervisor of Marta Alexandra Lopes Ribeiro
Biologia Celular e Molecular (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2013/05/01 - 2014/05/19 Esclerose lateral amiotrófica e demência frontotemporal associadas a mutação C9orf72
Supervisor of José Guilherme Neri Miranda Pires
Integrated Master in Medicine (MIM) (Degree)
Faculty of Medicine, University of Coimbra, Portugal
2011/03/01 - 2012/03/19 Défice Cognitivo na doença de parkinson: Relação com mutações no gene da glucocerebrosidase (GBA)
Supervisor of Bruno Miguel Gomes Rosa
Integrated Master in Medicine (MIM) (Master)
Faculty of Medicine, University of Coimbra, Portugal
2010/02 - 2011/11 Diagnóstico Molecular da Retinopatia Pigmentar
Supervisor of Joana Rita Justino Branco Oliveira
Master in Molecular Biology in Health (Master)
Escola Superior de Saúde Egas Moniz, Portugal
2009/12 - 2010/12 Estudo de marcadores de diagnóstico e prognóstico em gliomas
Supervisor of Ana Filipa Barata Duarte Guedes
Master in Biotechnology for Health Sciences
University of Trás-os-Montes e Alto Douro (UTAD), , Portugal
2009/09 - 2010/09 Relatório de estágio do mestrado em análises clinicas
Supervisor of Maria Helena Baptista Garrucho Martins Ribeiro
Master in Clinical Analysis (Master)
Faculty of Pharmacy, University of Coimbra, Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2022/09/21 Evaluation of Patients With Neurological Diseases Due to Nucleotide Repeat Expansions
Supervisor
Madalena Maria Petronilo Marques (Master)
Universidade de Coimbra Faculdade de Farmácia, Portugal
2022/06/08 Relação entre polimorfismos dos genes do recetor A2A de adenosina e do recetor P2X7 de ATP e a severidade da infeção por SARS-CoV-2
(Thesis) Main arguer
Jorge Varandas Lindo (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2022/05/27 Molecular causes of intellectual disability and developmental disorders
(Thesis) Main arguer
Nuno Miguel da Silva Maia (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021/12/09 Molecular Characterization Of Congenital Erythrocytosis And Idiopathic Erythrocytosis Analysed By Next-Generation Sequencing
(Thesis) Main arguer
Raquel da Silva Frias (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2021/05/18 Influência do alelo ?4 da Apolipoproteína E na avaliação cognitiva breve no espetro da Doença de Alzheimer
(Thesis) Main arguer
Vanessa Alexandra Duarte Costa (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2021/03/18 PARENTS´ LONGEVITY AS A PROTECTIVE FACTOR FOR ALZHEIMER´S DISEASE
(Thesis) Main arguer
Francisco Xavier Proença da Cunha Sequeira Mano (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2020/12/18 Familial multiple osteochondromatosis: literature review regarding a clinical trial
Supervisor
Sara Sofia Bessa Magalhães (Master)
Faculty of Pharmacy, University of Coimbra, Portugal
2020/11/12 Evaluation of potential markers for the diagnosis and prognosis of CADASIL patients
Supervisor
Inês Catarina da Fonseca Elias (Master)
Faculty of Science and Technology, University of Coimbra, Portugal
2017/11/29 Genotipagem de dois fatores genéticos de risco para a Doença de Alzheimer de inicio tardio, APOE e TREM2
Supervisor
Sónia Patrícia Nogueira Marques (Other)
Instituto Politécnico de Coimbra Escola Superior Agrária de Coimbra, Portugal
2015/12 Marcadores moleculares para a nefropatia diabética
(Thesis) Main arguer
Diana Maria de Figueiredo Pinto (Master)
Universidade de Aveiro, Portugal
2015/09/08 Evaluation of the diagnostic and prognostic value of IDH1 and Progranulin in patients with Gliomas
Supervisor
Marta Alexandra Lopes Ribeiro (Master)
Faculty of Science and Technology, University of Coimbra, Portugal
2015/02/16 Aberrant Promoter Hypermethylation of AHR Gene in Human Gliomas: methylation status analysis and clinicopathological significance
(Thesis) Arguer
Marta Sofia Carranca Barbosa (PhD)
Universidade de Évora, Portugal
2014/05/19 Esclerose lateral amiotrófica e demência frontotemporal associadas a mutação C9orf72
Supervisor
José Guilherme Neri Miranda Pires (Master)
Faculty of Medicine, University of Coimbra, Portugal
2014 Marcadores de resposta a fármacos em doentes de Diabetes tipo 2
(Thesis) Main arguer
Tiago Manuel Ferreira de Almeida (Master)
Universidade de Aveiro, Portugal
2012/03/19 Défice Cognitivo na doença de parkinson: Relação com mutações no gene da glucocerebrosidase (GBA)
Supervisor
Bruno Miguel Gomes Rosa (Master)
Faculty of Medicine, University of Coimbra, Portugal
2012 Identificação de mutações germinais no gene EpCAM e mutações somáticas no gene BRAFem familias com cancro do cólon e recto hereditário não associado a polipose (HNPCC)
(Thesis) Main arguer
Diana Patrícia Patacho dos Santos (Master)
Escola Superior de Saúde Egas Moniz, Portugal
2011 Diagnóstico Molecular da Retinopatia Pigmentar
Supervisor
Joana Rita Justino Branco Oliveira (Master)
Escola Superior de Saúde Egas Moniz, Portugal
2010 Estudo de marcadores de diagnóstico e prognóstico em gliomas
Supervisor
Ana Filipa Barata Duarte Guedes (Master)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2010 Relatório de estágio do mestrado em análises clinicas
Supervisor
Maria Helena Baptista Garrucho Martins Ribeiro (Master)
Faculty of Pharmacy, University of Coimbra, Portugal

Association member

Society Organization name Role
2015 - Current Genetic guardian of the Coimbra centre (site:0027) in the Genetic Frontotemporal dementia Initiative (GENFI) consortium Genetic guardian of the Coimbra Centre within GENFI
2013 - Current Coordinator of the Coimbra centre in the European early-onset dementia Consortium (EU-EOD) Coordenator of the Coimbra Centre within EU-EOD
2018 - 2018 Board member of the Grupo de Estudos de Envelhecimento Cerebral e Demência (GEECD) Vogal secretary
2015 - 2015 Board member (Secretary) of the Grupo de Estudos de Envelhecimento Cerebral e Demência (GEECD) Secretary
2012 - 2013 Board member (Secretary) of the Portuguese Society of Human Genetics (SPGH) - Responsible for the organization of the 17ª Annual meeting of SPGH at Pediatric Hospital Carmona da Mota, Coimbra, 21th-23th November 2013. Secretary
2011 - 2011 Board member (Treasurer) of the Grupo de Estudos de Envelhecimento Cerebral e Demência (GEECD) Treasurer

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2020 - Current Master in Clinical Laboratory Genetics (1st, 2nd editions), in the course unit of Molecular Genetics and Genomics Master in Clinical Laboratory Genetics (Mestrado) Faculty of Medicine, University of Coimbra, Portugal
2020 - Current Disciplina de Genética das Licenciaturas de Farmácia e Ciências Biomedicas Laboratoriais Licenciatura de Farmácia e Licenciatura de Ciências Biomedicas Laboratoriais (Licenciatura) Instituto Politécnico de Coimbra Escola Superior de Tecnologia da Saúde de Coimbra, Portugal
2012 - Current PhD in Health Sciences in the course From the Genotype to the Phenotype PhD in Health Sciences (PhDHS) (Doutoramento) Faculty of Medicine, University of Coimbra, Portugal
2021 - 2023 Master in Clinical Analysis in the course unit of Human Genetics Master in Clinical Analysis (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal
2020 - 2023 Master in Molecular and Translational Neuroscience (1st, 2nd, 3rd editions), in the course units of Dementia and Movement Disorders Master in Molecular and Translational Neuroscience (Mestrado) Universidade de Coimbra Faculdade de Medicina, Portugal
2019 - 2022 Fourth and Fifth courses for Clinical Laboratory Geneticists (CLGs) in education. Basics in Human Genetic Diagnostics, Genetic Diagnosis - Neurological case studies (Postgraduate Certificate) European Board of Medical Genetics, United Kingdom
2013 - 2021 Master in Pharmaceutical Biotechnology in the course unit of Molecular Diagnosis Master in Pharmaceutical Biotechnology (Mestrado) Faculty of Pharmacy, University of Coimbra, Portugal
2010 - 2018 PhD in Biology and Experimental Biomedicine in the course of Neurodegenerative disorders PhD in Biology and Experimental Biomedicine (PDBEB) (Doutoramento) Universidade de Coimbra, Portugal
2016 - 2016 Integrated Master in Medicine in the course unit of Research Seminars Integrated Master in Medicine (MIM) (Mestrado integrado) Faculty of Medicine, University of Coimbra, Portugal
2014 - 2014 PhD in Aging and Chronic Diseases in the of course Neuroscience and Mental Health PhD in Aging and Chronic Diseases (PhDOC) (Doutoramento) Faculty of Medicine, University of Coimbra, Portugal

Universidade do Minho Escola de Medicina, Portugal

Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2011 - 2014 Master on Molecular Biology in Health (1st - 4th editions), Core Module on Clinical and Molecular Genetics Master on Molecular Biology in Health (Mestrado) Escola Superior de Saúde Egas Moniz, Portugal
2011 - 2014 Master in Neuropsychology (1st - 6th editions) in the course unit of Pathology of the Nervous System Master in Neuropsychology Universidade Católica Portuguesa Instituto de Ciências da Saúde, Portugal
2011 - 2011 Master in Cellular and Molecular Biology in the course unit of Ageing Master in Cellular and Molecular Biology (Mestrado) Faculty of Science and Technology, University of Coimbra, Portugal
Distinctions

Award

2018 Best oral communication of the 18ª Reunião Portuguese Society of Angiology and Vascular Surgery (SPACV), 5th-7th July, Guimarães, Portugal.
Portuguese Society of Angiology and Vascular Surgery (SPACV), Portugal
2017 Awarded with a scholarship to attend the 2nd Annual Conference of the Global Brain Health Institute (GBHI) in Barcelona, Spain.
Global Brain Institution, United States
2013 Prize António Flores, Best poster of the Portuguese Society of Neurology, Hipoparatiroidismo primário familiar: identificação de um novo gene associado à doença por estudos de genotipagem completa do genoma e de sequenciação de exomas
2012 Prize António Flores, Best poster of the Portuguese Society of Neurology, Fatal familial insomnia (FFI), a case study with a challenging diagnosis
Portuguese Society of Neurology, Portugal

Title

2015 Clinical Laboratory Geneticist (CLG) in four domains, cytogenetics, molecular genetics, tumor genetics and biochemical Genetics (renewed in April 2020)
European Board of Medical Genetics, United Kingdom
1997 Specialist in Genetics - acquired by equiparação ao estágio da carreira dos Técnicos Superiores de Saúde, ramo genética
Ministry of Health in Portugal, Portugal