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My scientific and curricular path demonstrates my expertise in the field of Neuroscience, particularly on Neurogenetics and Molecular & Cellular Neurosciences areas. 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 the Center for Neuroscience and Cell Biology (CNC) as an FCT-investigator in Human Genetics and became the head of the Neurogenetics laboratory, where and ever since I have been doing Neuroscience-driven research, working in 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. Afterwards I was invited in 2019 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 projects for the Science Fund of Republic of Serbia and manuscripts for scientific journals. In 2017, I was appointed as an invited scientist at UC under the BrainHealth2020 program. 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 undergraduate and postgraduate students, (8 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 60 articles (>1100 citations; h-index=16 (Web of Science).
Identificação

Identificação pessoal

Nome completo
Maria do Rosário Pires Maia Neves de Almeida

Nomes de citação

  • Almeida, Maria Rosário

Identificadores de autor

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

Endereços de correio eletrónico

  • mralmeida@cnc.uc.pt (Profissional)

Websites

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

Domínios de atuação

  • Ciências Médicas e da Saúde - Medicina Básica - Neurociências

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Português (Idioma materno)
Inglês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Espanhol; Castelhano Utilizador independente (B1) Utilizador proficiente (C1) Utilizador elementar (A2) Utilizador independente (B2)
Francês Utilizador independente (B1) Utilizador independente (B2) Utilizador elementar (A2) Utilizador independente (B2)
Formação
Grau Classificação
2015
Concluído
Clinical Laboratory Geneticist (CLG) (Título de especialista)
Especialização em four domains, cytogenetics, molecular genetics, tumor genetics and biochemical Genetics
European Board of Medical Genetics, Reino Unido
Approved
2001/12/05
Concluído
PhD in Human Genetics (Doutoramento)
Faculty of Medicine, Newcastle University, Reino Unido
"Molecular Diagnosis of Hereditary Non Polyposis Colon Cancer and Sporadic Mismatch Repair Deficient Colorectal Tumours" (TESE/DISSERTAÇÃO)
Approved
1994
Concluído
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" (TESE/DISSERTAÇÃO)
Good
1990
Concluído
Biochemistry Degree (Licenciatura)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Molecular Diagnosis of Familial Adenomatous Polyposis patients" (TESE/DISSERTAÇÃO)
Percurso profissional

Outros

Categoria Profissional
Instituição de acolhimento
Empregador
2017/05/01 - Atual 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, Reino Unido
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, Reino Unido
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, Reino Unido
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, Reino Unido
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
Projetos

Bolsa

Designação Financiadores
2016 - 2017 Clinical and molecular characterization of patients with Paragangliomas of the Carotid Body with a view improved diagnosis and prognosis
Ref.SPACV2016
Investigador
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
Portuguese Society of Angiology and Vascular Surgery (SPACV)
2015 - 2016 Exploring Lysosomal dysfunction in Neuronal Ceroid Lipofuscinosis
Ref.SPDM/Genzyme2015
Investigador
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
Portuguese Society of Metabolic disorders (SPDM)

Projeto

Designação Financiadores
2015 - Atual 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)
2021 - 2023/12/31 Disease modelling of frontotemporal dementia in human brain organoids
PTDC/MEC-NEU/4814/2020
Investigador responsável
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

CNC.IBILI, Portugal
Fundação para a Ciência e a Tecnologia
2021 - 2022/03/31 Exploring the Immunogenetics of FTD using advanced human brain organoid models
E119
Investigador
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Takeda Pharmaceutical Company Limited
2012 - 2015/05/31 BIOMARKAPD: Biomarkers for Alzheimer's disease and Parkinson's disease
JPND/0005/2011
Investigador
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
2010 - 2014/03/30 Comprehensive analysis of rod-cone photoreceptor degeneration associated with rhodopsin mutations
E-Rare2/SAU/0001/2008
Investigador
Universidade de Coimbra, Portugal
Fundação para a Ciência e a Tecnologia
2011 - 2014 LRRK2 role on auto-antibody production by human B cells
Ref.MJFF2011
Investigador responsável
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
The Michael J. FOX Foundation for Parkinson´s Research
2012 - 2012 Défices Cognitivos na Doença de Parkinson: Evolução e Factores Preditivos em Doentes Tratados com Cirurgia Funcional de Estimulação Cerebral Profunda
Ref.CHSJ2012
Investigador
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
Centro Hospitalar Universitário de São João
Produções

Publicações

Artigo em revista
  1. Maria Rosário Almeida; Inês Elias; Carolina Fernandes; Rita Machado; Orlando Galego; Gustavo Santo. "NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype". neurogenetics (2021): https://doi.org/10.1007/s10048-021-00679-w.
    10.1007/s10048-021-00679-w
  2. Lima, Marisa; Tábuas-Pereira, Miguel; Duro, Diana; Durães, João; Vieira, Daniela; Baldeiras, Inês; Almeida, MariaRosário; Santana, Isabel. "Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study". Neural Regeneration Research 16 5 (2021): 910. http://dx.doi.org/10.4103/1673-5374.297082.
    10.4103/1673-5374.297082
  3. Neuray, Caroline; Sultan, Tipu; Alvi, Javeira Raza; Franca, Marcondes C; Assmann, Birgit; Wagner, Matias; Canafoglia, Laura; et al. "Early-onset phenotype of bi-allelic GRN mutations". Brain (2020): http://dx.doi.org/10.1093/brain/awaa414.
    10.1093/brain/awaa414
  4. González-Tablas, María; Otero, Álvaro; Arandia, Daniel; Pascual, Daniel; Ruiz, Laura; Sousa, Pablo; García, Andoni; et al. "Tumor cell and immune cell profiles in primary human glioblastoma: Impact on patient outcome". Brain Pathology (2020): http://dx.doi.org/10.1111/bpa.12927.
    10.1111/bpa.12927
  5. Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; et al. "Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort". Cortex 133 (2020): 384-398. http://dx.doi.org/10.1016/j.cortex.2020.08.023.
    10.1016/j.cortex.2020.08.023
  6. Maria Rosário Almeida; Ana Rita Silva; Inês Elias; Carolina Fernandes; Rita Machado; Orlando Galego; Gustavo Cordeiro Santo. "SQSTM1 gene as a potential genetic modifier of CADASIL phenotype". Journal of Neurology (2020): https://doi.org/10.1007/s00415-020-10308-5.
    10.1007/s00415-020-10308-5
  7. Cardoso, Remy; Lemos, Carolina; Oliveiros, Bárbara; Almeida, Maria Rosário; Baldeiras, Inês; Pereira, Cláudia Fragão; Santos, Ana; et al. "APOE ¿4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer’s Disease". Journal of Alzheimer's Disease 78 2 (2020): 587-601. http://dx.doi.org/10.3233/jad-200556.
    10.3233/jad-200556
  8. Rosas, Irene; Martínez, Carmen; Coto, Eliecer; Clarimón, Jordi; Lleó, Alberto; Illán-Gala, Ignacio; Dols-Icardo, Oriol; et al. "Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia". Neurobiology of Aging (2020): http://dx.doi.org/10.1016/j.neurobiolaging.2020.08.018.
    10.1016/j.neurobiolaging.2020.08.018
  9. Fernandes, Andreia; Tábuas-Pereira, Miguel; Duro, Diana; Lima, Marisa; Gens, Helena; Santiago, Beatriz; Durães, João; et al. "C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease dementia". Experimental Gerontology (2020): 111004. http://dx.doi.org/10.1016/j.exger.2020.111004.
    10.1016/j.exger.2020.111004
  10. van der Ende, Emma L; Xiao, Meifang; Xu, Desheng; Poos, Jackie M; Panman, Jessica L; Jiskoot, Lize C; Meeter, Lieke H; et al. "Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia". Journal of Neurology, Neurosurgery & Psychiatry 91 6 (2020): 612-621. http://dx.doi.org/10.1136/jnnp-2019-322493.
    10.1136/jnnp-2019-322493
  11. Moore, Katrina M; Nicholas, Jennifer; Grossman, Murray; McMillan, Corey T; Irwin, David J; Massimo, Lauren; Van Deerlin, Vivianna M; et al. "Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study". The Lancet Neurology 19 2 (2020): 145-156. http://dx.doi.org/10.1016/s1474-4422(19)30394-1.
    10.1016/s1474-4422(19)30394-1
  12. Heller, Carolin; Foiani, Martha S; Moore, Katrina; Convery, Rhian; Bocchetta, Martina; Neason, Mollie; Cash, David M; et al. "Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia". Journal of Neurology, Neurosurgery & Psychiatry 91 3 (2020): 263-270. http://dx.doi.org/10.1136/jnnp-2019-321954.
    10.1136/jnnp-2019-321954
  13. Tábuas-Pereira, Miguel; Almeida, Maria Rosário; Duro, Diana; Lima, Marisa; Durães, João; Guerreiro, Rita; Brás, José; Baldeiras, Inês; Santana, Isabel. "Patients with progranulin mutations overlap with the progressive dysexecutive syndrome: towards the definition of a frontoparietal dementia phenotype". Brain Communications 2 2 (2020): http://dx.doi.org/10.1093/braincomms/fcaa126.
    10.1093/braincomms/fcaa126
  14. van der Ende, Emma L; Meeter, Lieke H; Poos, Jackie M; Panman, Jessica L; Jiskoot, Lize C; Dopper, Elise G P; Papma, Janne M; et al. "Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study". The Lancet Neurology 18 12 (2019): 1103-1111. http://dx.doi.org/10.1016/s1474-4422(19)30354-0.
    10.1016/s1474-4422(19)30354-0
  15. Irene Rosas; Carmen Martínez; Jordi Clarimón; Alberto Lleó; Ignacio Illán-Gala; Oriol Dols-Icardo; Barbara Borroni; et al. "Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease". Neurobiology of Aging (2019): https://doi.org/10.1016/j.neurobiolaging.2019.10.017.
    10.1016/j.neurobiolaging.2019.10.017
  16. Tábuas-Pereira, Miguel; Durães, João; Lopes, Joana; Sales, Francisco; Bento, Conceição; Duro, Diana; Santiago, Beatriz; et al. "Increased CSF tau is associated with a higher risk of seizures in patients with Alzheimer's disease". Epilepsy & Behavior 98 (2019): 207-209. http://dx.doi.org/10.1016/j.yebeh.2019.06.033.
    10.1016/j.yebeh.2019.06.033
  17. Gazzina, Stefano; Grassi, Mario; Premi, Enrico; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; Gasparotti, Roberto; et al. "Education modulates brain maintenance in presymptomatic frontotemporal dementia". Journal of Neurology, Neurosurgery & Psychiatry 90 10 (2019): 1124-1130. http://dx.doi.org/10.1136/jnnp-2019-320439.
    10.1136/jnnp-2019-320439
  18. Premi, Enrico; Calhoun, Vince D.; Diano, Matteo; Gazzina, Stefano; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; et al. "The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint". NeuroImage 189 (2019): 645-654. http://dx.doi.org/10.1016/j.neuroimage.2019.01.080.
    10.1016/j.neuroimage.2019.01.080
  19. Rittman, T.; Borchert, R.; Jones, S.; van Swieten, J.; Borroni, B.; Galimberti, D.; Masellis, M.; et al. "Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia". Neurobiology of Aging 77 (2019): 169-177. http://www.scopus.com/inward/record.url?eid=2-s2.0-85062232071&partnerID=MN8TOARS.
    10.1016/j.neurobiolaging.2018.12.009
  20. Sudre, Carole H.; Bocchetta, Martina; Heller, Carolin; Convery, Rhian; Neason, Mollie; Moore, Katrina M.; Cash, David M.; et al. "White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study". NeuroImage: Clinical 24 (2019): 102077. http://dx.doi.org/10.1016/j.nicl.2019.102077.
    10.1016/j.nicl.2019.102077
  21. Santo, G. C.; Silva, A. R.; Galego, O.; Fernandes, C.; Gomes, I.; Machado, R.; Correia, I.; et al. "Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): Caracterização do Espectro de Manifestações Clínicas e do Padrão de Transmissão Genética". Sinapse 19 1-2 (2019): 17-25.
  22. Santo, G. C.; Baldeiras, I.; Guerreiro, R.; Ribeiro, J. A.; Cunha, R.; Youngstein, T.; Nanthapisal, S.; et al. "Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause". Cerebrovasc Dis 46 5-6 (2018): 257-264.
    10.1159/000495794
  23. Verheijen, J.; van der Zee, J.; Gijselinck, I.; Van den Bossche, T.; Dillen, L.; Heeman, B.; Gomez-Tortosa, E.; et al. "Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort". Neurobiology of Aging 62 (2018): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000418478600027&KeyUID=WOS:000418478600027.
    10.1016/j.neurobiolaging.2017.10.012
  24. Santana, I.; Baldeiras, I.; Santiago, B.; Duro, D.; Freitas, S.; Pereira, M. T.; Almeida, M. R.; et al. "Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration". J Alzheimers Dis 64 s1 (2018): S647-s657. http://www.scopus.com/inward/record.url?eid=2-s2.0-85047120604&partnerID=MN8TOARS.
    10.3233/jad-179908
  25. Tabuas-Pereira, Miguel; Almendra, Luciano; Almeida, Maria Rosario; Duraes, Joao; Pinho, Andre; Matos, Anabela; Negrao, Luis; Geraldo, Argemiro; Santana, Isabel. "Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study". Muscle & nerve (2018): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:30447080&KeyUID=MEDLINE:30447080.
    10.1002/mus.26383
  26. Philtjens, S.; Van Mossevelde, S.; van der Zee, J.; Wauters, E.; Dillen, L.; Vandenbulcke, M.; Vandenberghe, R.; et al. "Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia". Neurobiol Aging 66 (2018): 181.e3-181.e10. http://dx.doi.org/10.1016/j.neurobiolaging.2018.02.011.
    10.1016/j.neurobiolaging.2018.02.011
  27. Gonzalez-Tablas, M.; Crespo, I.; Vital, A. L.; Otero, A.; Nieto, A. B.; Sousa, P.; Patino-Alonso, M. C.; et al. "Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles". Oncotarget 9 46 (2018): 28083-28102.
    10.18632/oncotarget.25562
  28. Baldeiras, I.; Santana, I.; Leitao, M. J.; Gens, H.; Pascoal, R.; Tabuas-Pereira, M.; Beato-Coelho, J.; et al. "Addition of the A beta 42/40 ratio to the cerebrospinal fluid biomarker profile increases the predictive value for underlying Alzheimer's disease dementia in mild cognitive impairment". Alzheimers Research & Therapy 10 (2018): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000427846300003&KeyUID=WOS:000427846300003.
    10.1186/s13195-018-0362-2
  29. Baradaran-Heravi, Y.; Dillen, L.; Nguyen, H. P.; Van Mossevelde, S.; Baets, J.; De Jonghe, P.; Engelborghs, S.; et al. "No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients". Neurobiol Aging 69 (2018): 293.e9-293.e11.
    10.1016/j.neurobiolaging.2018.05.005
  30. Ramos de Matos, Mafalda; Ferreira, Catarina; Herukka, Sanna-Kaisa; Soininen, Hilkka; Janeiro, Andre; Santana, Isabel; Baldeiras, Ines; et al. "Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers". Journal of Alzheimer's disease : JAD 66 2 (2018): 639-652. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:30320580&KeyUID=MEDLINE:30320580.
    10.3233/jad-180512
  31. Gabriel, A. J.; Almeida, M. R.; Ribeiro, M. H.; Carneiro, D.; Valerio, D.; Pinheiro, A. C.; Pascoal, R.; et al. "Influence of Butyrylcholinesterase in Progression of Mild Cognitive Impairment to Alzheimer's Disease". Journal of Alzheimers Disease 61 3 (2018): 1097-1105. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000422845200023&KeyUID=WOS:000422845200023.
    10.3233/jad-170695
  32. Ramos De Matos, M.; Ferreira, C.; Herukka, S.-K.; Soininen, H.; Janeiro, A.; Santana, I.; Baldeiras, I.; et al. "Quantitative genetics validates previous genetic variants and identifies novel genetic players influencing Alzheimer's disease cerebrospinal fluid biomarkers". Journal of Alzheimer's Disease 66 2 (2018): 639-652. http://www.scopus.com/inward/record.url?eid=2-s2.0-85055989436&partnerID=MN8TOARS.
    10.3233/JAD-180512
  33. 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
  34. 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
  35. 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.
  36. 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
  37. 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
  38. Leito, M. J.; Baldeiras, I.; Almeida, M. R.; Ribeiro, M. H.; Santos, A. C.; Ribeiro, M.; Tomas, J.; et al. "CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result". Journal of Neurology 263 9 (2016): 1847-1861. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000382638000018&KeyUID=WOS:000382638000018.
    10.1007/s00415-016-8209-x
  39. Guerreiro, R.; Bras, J.; Batista, S.; Pires, P.; Ribeiro, M. H.; Almeida, M. R.; Oliveira, C.; Hardy, J.; Santana, I.. "Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation". Genes Brain and Behavior 15 7 (2016): 669-677. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000383775000006&KeyUID=WOS:000383775000006.
    10.1111/gbb.12308
  40. Almeida, M. R.; Macario, M. C.; Ramos, L.; Baldeiras, I.; Ribeiro, M. H.; Santana, I.. "Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation". Neurobiology of Aging 41 (2016): http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000375129400020&KeyUID=WOS:000375129400020.
    10.1016/j.neurobiolaging.2016.02.019
  41. 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.
    10.1016/j.neuroscience.2016.02.057
  42. 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.
    10.1016/j.dadm.2015.11.004
  43. 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.
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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
  50. 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
  51. 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.
    10.3389/fneur.2012.00065
  52. 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.
    10.1002/ajmg.a.32616
  53. Machado, M. V.; Ravasco, P.; Martins, A.; Almeida, M. R.; Camilo, M. E.; Cortez-Pinto, H.. "Iron homeostasis and H63D mutations in alcoholics with and without liver disease". World Journal of Gastroenterology 15 1 (2009): 106-111. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000262363400013&KeyUID=WOS:000262363400013.
    10.3748/wjg.15.106
  54. Almeida, M. R.; Campos-Xavier, A. B.; Medeira, A.; Cordeiro, I.; Sousa, A. B.; Lima, M.; Soares, G.; et al. "Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal". Clinical Genetics 75 2 (2009): 150-156. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000262665700009&KeyUID=WOS:000262665700009.
    10.1111/j.1399-0004.2008.01123.x
  55. 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
  56. Santos, H.G.; Almeida, M.; Fernandes, H.; Wilkie, A.. "Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS (American Journal of Medical Genetic (2007) 143A, (355-359) DOI: 10.002/ajmg.a.31556))". American Journal of Medical Genetics, Part A 146 9 (2008): 1234-1234. http://www.scopus.com/inward/record.url?eid=2-s2.0-43049129617&partnerID=MN8TOARS.
    10.1002/ajmg.a.31761
  57. Ewart-Toland, A.; Briassouli, P.; de Koning, J. P.; Mao, J. H.; Yuan, J. W.; Chan, F.; MacCarthy-Morrogh, L.; et al. "Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human". Nature Genetics 34 4 (2003): 403-412. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184470500018&KeyUID=WOS:000184470500018.
    10.1038/ng1220
  58. Müller, W.; Burgart, L.J.; Krause-Paulus, R.; Thibodeau, S.N.; Almeida, M.; Edmonston, T.B.; Boland, C.R.; et al. "The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - Results of an international collaborative study". Familial Cancer 1 2 (2001): 87-92. http://www.scopus.com/inward/record.url?eid=2-s2.0-6444245757&partnerID=MN8TOARS.
    10.1023/A:1013840907881
  59. Almeida, MR; Guerreiro, M; Mendonça, A; Almeida, M. do R.; Guerreiro, M.; de Mendonça, A.. "Familial Frontotemporal Dementia associated with MAPT Mutation: the first Portuguese case". Sinapse 6 1 (2000): 75-78. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745328087&partnerID=MN8TOARS.
  60. Fidalgo, P.; Almeida, M. R.; West, S.; Gaspar, C.; Maia, L.; Wijnen, J.; Albuquerque, C.; et al. "Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach". European Journal of Human Genetics 8 1 (2000): 49-53. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000085516400008&KeyUID=WOS:000085516400008.
    10.1038/sj.ejhg.5200393
  61. Almeida, R.; Morton, N.; Fidalgo, P.; Leitao, N.; Mira, C.; Rueff, J.; Monteiro, C.. "APC intragenic haplotypes in familial adenomatous polyposis". Clinical Genetics 50 6 (1996): 483-485. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1996WH23900010&KeyUID=WOS:A1996WH23900010.
  62. Almeida, R.; Fidalgo, P.; Ramalho, E.; Bras, A.; Leitao, N.; Mira, C.; Rueff, J.; Monteiro, C.. "Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)(n) flanking markers by fluorescence based semiautomated DNA analysis". Journal of Medical Genetics 33 3 (1996): 244-247. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1996TY03900016&KeyUID=WOS:A1996TY03900016.
    10.1136/jmg.33.3.244
Capítulo de livro
  1. Almeida MR; Oliveira C. "Alterações Genéticas". editado por Lidel, 40-59. 2013.
Resumo em conferência
  1. Lima, M.; Baldeiras, I; Almeida, Maria Rosário; Pereira, M.; Duro, D.; Gomes, I.; Santana, I.. "Memory impairment in FTD patients with pathogenic mutations". Trabalho apresentado em 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Publicado
  2. 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". Trabalho apresentado em 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Publicado
  3. 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". Trabalho apresentado em 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Publicado
  4. 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". Trabalho apresentado em Annual Meeting of the American-Academy-of-Neurology, 2020.
    Publicado
  5. 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". Trabalho apresentado em 5th Congress of the European-Academy-of-Neurology (EAN), 2019.
    Publicado
  6. Fernandes, A.; Tabuas-Pereira, M.; Duro, D.; Lima, M.; Gens, H.; Santiago, H.; Duraes, J.; et al. "C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease". Trabalho apresentado em 5th Congress of the European-Academy-of-Neurology (EAN), 2019.
    Publicado
  7. 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". Trabalho apresentado em International Congress of Parkinson's Disease and Movement Disorders, 2018.
    Publicado
  8. 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.
    Publicado
  9. 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.
    Publicado
  10. Ribeiro, J. A.; Moreira, F.; Beato-Coelho, J.; Morgadinho, A. S.; Almeida, M. R.; Januario, C.. "Two cases of Parkinsonism with atypical genetics". 2016.
    Publicado
  11. Morgadinho, A.; Almeida, M. R.; Coutinho, P.. "G2019S mutation is a very important cause of Parkinson's disease in Portugal". 2010.
    Publicado
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
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, Bélgica)

Orientação

Título / Tema
Papel desempenhado
Curso (Tipo)
Instituição / Organização
2019/09/01 - 2020/12/18 Familial multiple osteochondromatosis: literature review regarding a clinical trial
Orientador de Sara Sofia Bessa Magalhães
Biotecnologia Farmacêutica (Mestrado)
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
Orientador de Inês Catarina da Fonseca Elias
Biologia Celular e Molecular (Mestrado)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2015/09/01 - 2020/03/05 Avaliação do sistema colinérgico na doença de Alzheimer
Coorientador de António José dos Santos Gabriel
PhD Program in Biosciences (Doutoramento)
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
Orientador de Sónia Patrícia Nogueira Marques
Degree in Biotechnology (Licenciatura/Bacharelato)
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
Orientador de Marta Alexandra Lopes Ribeiro
Biologia Celular e Molecular (Mestrado)
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
Orientador de José Guilherme Neri Miranda Pires
Integrated Master in Medicine (MIM) (Licenciatura/Bacharelato)
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)
Orientador de Bruno Miguel Gomes Rosa
Integrated Master in Medicine (MIM) (Mestrado)
Faculty of Medicine, University of Coimbra, Portugal
2010/02 - 2011/11 Diagnóstico Molecular da Retinopatia Pigmentar
Orientador de Joana Rita Justino Branco Oliveira
Master in Molecular Biology in Health (Mestrado)
Escola Superior de Saúde Egas Moniz, Portugal
2009/12 - 2010/12 Estudo de marcadores de diagnóstico e prognóstico em gliomas
Orientador de 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
Orientador de Maria Helena Baptista Garrucho Martins Ribeiro
Master in Clinical Analysis (Mestrado)
Faculty of Pharmacy, University of Coimbra, Portugal

Júri de grau académico

Tema
Tipo de participação
Nome do candidato (Tipo de grau)
Instituição / Organização
2020/12/18 Familial multiple osteochondromatosis: literature review regarding a clinical trial
Orientador
Sara Sofia Bessa Magalhães (Mestrado)
Faculty of Pharmacy, University of Coimbra, Portugal
2020/11/12 Evaluation of potential markers for the diagnosis and prognosis of CADASIL patients
Orientador
Inês Catarina da Fonseca Elias (Mestrado)
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
Orientador
Sónia Patrícia Nogueira Marques (Outro)
Instituto Politécnico de Coimbra Escola Superior Agrária de Coimbra, Portugal
2015/12 Marcadores moleculares para a nefropatia diabética
Arguente principal
Diana Maria de Figueiredo Pinto (Mestrado)
Universidade de Aveiro, Portugal
2015/09/08 Evaluation of the diagnostic and prognostic value of IDH1 and Progranulin in patients with Gliomas
Orientador
Marta Alexandra Lopes Ribeiro (Mestrado)
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
Arguente
Marta Sofia Carranca Barbosa (Doutoramento)
Universidade de Évora, Portugal
2014/05/19 Esclerose lateral amiotrófica e demência frontotemporal associadas a mutação C9orf72
Orientador
José Guilherme Neri Miranda Pires (Mestrado)
Faculty of Medicine, University of Coimbra, Portugal
2014 Marcadores de resposta a fármacos em doentes de Diabetes tipo 2
Arguente principal
Tiago Manuel Ferreira de Almeida (Mestrado)
Universidade de Aveiro, Portugal
2012/03/19 Défice Cognitivo na doença de parkinson: Relação com mutações no gene da glucocerebrosidase (GBA)
Orientador
Bruno Miguel Gomes Rosa (Mestrado)
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)
Arguente principal
Diana Patrícia Patacho dos Santos (Mestrado)
Escola Superior de Saúde Egas Moniz, Portugal
2011 Diagnóstico Molecular da Retinopatia Pigmentar
Orientador
Joana Rita Justino Branco Oliveira (Mestrado)
Escola Superior de Saúde Egas Moniz, Portugal
2010 Estudo de marcadores de diagnóstico e prognóstico em gliomas
Orientador
Ana Filipa Barata Duarte Guedes (Mestrado)
Universidade de Trás-os-Montes e Alto Douro, Portugal
2010 Relatório de estágio do mestrado em análises clinicas
Orientador
Maria Helena Baptista Garrucho Martins Ribeiro (Mestrado)
Faculty of Pharmacy, University of Coimbra, Portugal

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2020 - Atual Master in Clinical Laboratory Genetics (1st edition), in the course unit of Molecular Genetics and Genomics Master in Clinical Laboratory Genetics (Mestrado) Faculty of Medicine, University of Coimbra, Portugal
2013 - Atual Master in Pharmaceutical Biotechnology in the course unit of Molecular Diagnosis Master in Pharmaceutical Biotechnology (Mestrado) Faculty of Pharmacy, University of Coimbra, Portugal
2012 - Atual 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
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

Membro de associação

Nome da associação Tipo de participação
2015 - Atual 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 - Atual 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
Distinções

Prémio

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, Estados Unidos
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

Título

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, Reino Unido
1997 Specialist in Genetics - acquired by equiparação ao estágio da carreira dos Técnicos Superiores de Saúde, ramo genética
Ministry of Health in Portugal, Portugal