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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).
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
2020
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
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
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, 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
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
Concluído
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)
Concluído
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)
Concluído

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)
Em curso
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
Investigador responsável
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

CNC.IBILI, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2021/03/01 - 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
Em curso
2012/06/01 - 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
Concluído
2010/04/01 - 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
Concluído
2011 - 2014 LRRK2 role on auto-antibody production by human B cells
Investigador responsável
Center for Neurosciences and Cell Biology (CNC), University of Coimbra, Portugal
The Michael J. FOX Foundation for Parkinson´s Research
Concluído
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. Jorge Lindo; Célia Nogueira; Rui Soares; Nuno Cunha; Maria Rosário Almeida; Lisa Rodrigues; Patrícia Coelho; et al. "Genetic Polymorphisms of P2RX7 but Not of ADORA2A Are Associated with the Severity of SARS-CoV-2 Infection". International Journal of Molecular Sciences (2024): https://doi.org/10.3390/ijms25116135.
    10.3390/ijms25116135
  2. Tábuas-Pereira, Miguel; Lima, Marisa; Bernardes, Catarina; Durães, João; Duro, Diana; Baldeiras, Ines; Freire-Gonçalves, António; et al. "SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia". Parkinsonism & Related Disorders (2024): 106069. http://dx.doi.org/10.1016/j.parkreldis.2024.106069.
    Publicado • 10.1016/j.parkreldis.2024.106069
  3. 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
  4. 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
  5. 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.
    Publicado • 10.3390/ijms25010511
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. Woollacott, Ione O. C.; Swift, Imogen J.; Sogorb-Esteve, Aitana; Heller, Carolin; Knowles, Kathryn; Bouzigues, Arabella; Russell, Lucy L.; et al. "CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia". Annals of Clinical and Translational Neurology 9 11 (2022): 1764-1777. http://dx.doi.org/10.1002/acn3.51672.
    10.1002/acn3.51672
  21. Staffaroni, Adam M.; Quintana, Melanie; Wendelberger, Barbara; Heuer, Hilary W.; Russell, Lucy L.; Cobigo, Yann; Wolf, Amy; et al. "Temporal order of clinical and biomarker changes in familial frontotemporal dementia". Nature Medicine 28 10 (2022): 2194-2206. http://dx.doi.org/10.1038/s41591-022-01942-9.
    Acesso aberto • 10.1038/s41591-022-01942-9
  22. Miguel Tábuas-Pereira; Rita Guerreiro; Célia Kun-Rodrigues; Maria Rosário Almeida; José Brás; Isabel Santana. "Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation". neurogenetics (2022): https://doi.org/10.1007/s10048-022-00699-0.
    10.1007/s10048-022-00699-0
  23. van der Ende, Emma L.; Heller, Carolin; Sogorb-Esteve, Aitana; Swift, Imogen J.; McFall, David; Peakman, Georgia; Bouzigues, Arabella; et al. "Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study". Journal of Neuroinflammation 19 1 (2022): http://dx.doi.org/10.1186/s12974-022-02573-0.
    10.1186/s12974-022-02573-0
  24. Oliveira, Ana Rafaela; Martins, Solange; Cammarata, Giuseppe; Martins, Mariana; Cardoso, Ana Maria; Almeida, Maria Rosário; do Carmo Macário, Maria; et al. "Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations". Biomedicines 10 8 (2022): 1905. http://dx.doi.org/10.3390/biomedicines10081905.
    10.3390/biomedicines10081905
  25. Sogorb-Esteve, Aitana; Nilsson, Johanna; Swift, Imogen J.; Heller, Carolin; Bocchetta, Martina; Russell, Lucy L.; Peakman, Georgia; et al. "Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia". Alzheimer's Research & Therapy 14 1 (2022): http://dx.doi.org/10.1186/s13195-022-01042-3.
    10.1186/s13195-022-01042-3
  26. Premi, Enrico; Costa, Tommaso; Gazzina, Stefano; Benussi, Alberto; Cauda, Franco; Gasparotti, Roberto; Archetti, Silvana; et al. "An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers". Journal of Alzheimer's Disease 86 1 (2022): 205-218. http://dx.doi.org/10.3233/jad-215447.
    10.3233/jad-215447
  27. Shafiei, Golia; Bazinet, Vincent; Dadar, Mahsa; Manera, Ana L; Collins, D Louis; Dagher, Alain; Borroni, Barbara; et al. "Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia". Brain 146 1 (2022): 321-336. http://dx.doi.org/10.1093/brain/awac069.
    10.1093/brain/awac069
  28. Shafiei, Golia; Bazinet, Vincent; Dadar, Mahsa; Manera, Ana L; Collins, D Louis; Dagher, Alain; Borroni, Barbara; et al. "Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia". Brain 146 1 (2022): 321-336. http://dx.doi.org/10.1093/brain/awac069.
    10.1093/brain/awac069
  29. "Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes". European Journal of Neurology (2022): http://dx.doi.org/10.1111/ene.15248.
    10.1111/ene.15248
  30. Poos, Jackie M.; Moore, Katrina M.; Nicholas, Jennifer; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Jiskoot, Lize C.; et al. "Cognitive composites for genetic frontotemporal dementia: GENFI-Cog". Alzheimer's Research & Therapy 14 1 (2022): http://dx.doi.org/10.1186/s13195-022-00958-0.
    10.1186/s13195-022-00958-0
  31. "Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia". European Journal of Neurology 29 1 (2022): 36-46. http://dx.doi.org/10.1111/ene.15058.
    10.1111/ene.15058
  32. Benussi, Alberto; Alberici, Antonella; Samra, Kiran; Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Ducharme, Simon; et al. "Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia". Alzheimer's & Dementia 18 7 (2021): 1408-1423. http://dx.doi.org/10.1002/alz.12485.
    10.1002/alz.12485
  33. 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
  34. Wilke, Carlo; Reich, Selina; Swieten, John C.; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; et al. "Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH : A Longitudinal Multicentre Study". Annals of Neurology 91 1 (2021): 33-47. http://dx.doi.org/10.1002/ana.26265.
    10.1002/ana.26265
  35. Bergström, Sofia; Öijerstedt, Linn; Remnestål, Julia; Olofsson, Jennie; Ullgren, Abbe; Seelaar, Harro; van Swieten, John C.; et al. "A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study". Molecular Neurodegeneration 16 1 (2021): http://dx.doi.org/10.1186/s13024-021-00499-4.
    10.1186/s13024-021-00499-4
  36. Öijerstedt, Linn; Andersson, Christin; Jelic, Vesna; van Swieten, John Cornelis; Jiskoot, Lize C; Seelaar, Harro; Borroni, Barbara; et al. "Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study". Journal of Neurology, Neurosurgery & Psychiatry 93 3 (2021): 336-339. http://dx.doi.org/10.1136/jnnp-2021-327005.
    10.1136/jnnp-2021-327005
  37. Peakman, Georgia; Russell, Lucy L; Convery, Rhian S; Nicholas, Jennifer M; Van Swieten, John C; Jiskoot, Lize C; Moreno, Fermin; et al. "Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort". Journal of Neurology, Neurosurgery & Psychiatry 93 2 (2021): 158-168. http://dx.doi.org/10.1136/jnnp-2021-326868.
    10.1136/jnnp-2021-326868
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  94. 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
  95. 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
  96. 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
  97. 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
  98. 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
  99. 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
  100. 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
  101. 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
  102. 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
  103. 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
  104. 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
  105. 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
  106. 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
  107. 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
  108. 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.
  109. 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
  110. 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.
  111. 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.
Poster em conferência
  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". Trabalho apresentado em 37ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2023.
  2. Irina Santos; Sousa Fernandes, Carolina; Rita Machado, Ana; Galego, Oscar; Almeida, Maria Rosário; Baldeiras, Ines; Santo, Gustavo; Silva, Ana Rita. "Emotional Changes in Sporadic Cerebral Small Vessel Disease (CSVD) and Cerebral Autossomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): an exploratory study". Trabalho apresentado em 7th European Sroke Organisation Conference, 2021.
  3. 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". Trabalho apresentado em 14th International Conference in Alzheimer's & Parkinson's Disease, 2019.
  4. 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". Trabalho apresentado em 21st Annual Meeting -Sociedade Portuguesa de Genética Humana, 2017.
  5. 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". Trabalho apresentado em SFN, 2014.
  6. 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". Trabalho apresentado em SPN meeting, 2013.
  7. 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". Trabalho apresentado em XIII Meeting of the Portuguese Society for Neurosciences, 2013.
  8. 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". Trabalho apresentado em ARVO congress, 2012.
  9. 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". Trabalho apresentado em ESMRMB congress, 2012.
Resumo em conferência
  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". Trabalho apresentado em AGEINGCONGRESS, Leiria, 2023.
    Publicado
  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". Trabalho apresentado em 8th Congress of the European Academy of Neurology, Viena, 2022.
    Publicado
  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". Trabalho apresentado em 33ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Coimbra, 2020.
    Publicado
  4. 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
  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". Trabalho apresentado em 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Publicado
  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". Trabalho apresentado em 6th Congress of the European-Academy-of-Neurology (EAN), 2020.
    Publicado
  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". Trabalho apresentado em Annual Meeting of the American-Academy-of-Neurology, 2020.
    Publicado
  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". Trabalho apresentado em 5th Congress of the European-Academy-of-Neurology (EAN), 2019.
    Publicado
  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". Trabalho apresentado em Congresso de Neurologia 2018, Porto, 2018.
    Publicado
  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". Trabalho apresentado em International Congress of Parkinson's Disease and Movement Disorders, 2018.
    Publicado
  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.
    Publicado
  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.
    Publicado
  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.
    Publicado
  15. Parra, Joana; Tábuas-Pereira, Miguel; Duro, Diana; Almeida, Maria Rosário; Santana, Isabel. "Mutação no gene C9orf72 como Demência com Corpos de Lewy". Trabalho apresentado em Congresso de Neurologia, Lisboa, 2015.
    Publicado
  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". Trabalho apresentado em Fórum de Neurologia, Aveiro, 2015.
    Publicado
  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". Trabalho apresentado em 29ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Aveiro, 2015.
    Publicado
  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". Trabalho apresentado em Congresso de Neurologia, Lisboa, 2014.
    Publicado
  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". Trabalho apresentado em 28ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Aveiro, 2014.
    Publicado
  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". Trabalho apresentado em Neuro 2012, Porto, 2012.
    Publicado
  21. 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
2022/09/01 - 2023/10/23 Genetic Analysis of Patients with Frontotemporal Dementia and Generation of Induced Pluripotent Stem Cells and Brain Organoids
Orientador
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
Orientador
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
Orientador
Mestrado em Biotecnologia Farmacêutica (Mestrado)
Universidade de Coimbra Faculdade de Farmácia, Portugal
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
2022/09/21 Evaluation of Patients With Neurological Diseases Due to Nucleotide Repeat Expansions
Orientador
Madalena Maria Petronilo Marques (Mestrado)
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
Arguente principal
Jorge Varandas Lindo (Mestrado)
Universidade de Coimbra Faculdade de Medicina, Portugal
2022/05/27 Molecular causes of intellectual disability and developmental disorders
Arguente principal
Nuno Miguel da Silva Maia (Doutoramento)
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
Arguente principal
Raquel da Silva Frias (Mestrado)
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
Arguente principal
Vanessa Alexandra Duarte Costa (Mestrado)
Universidade de Coimbra Faculdade de Medicina, Portugal
2021/03/18 PARENTS´ LONGEVITY AS A PROTECTIVE FACTOR FOR ALZHEIMER´S DISEASE
Arguente principal
Francisco Xavier Proença da Cunha Sequeira Mano (Mestrado)
Universidade de Coimbra Faculdade de Medicina, Portugal
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, 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 - Atual 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 - 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
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, Reino Unido
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

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