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Isabel Silveira is Group Leader at Instituto de Investigação e Inovação em Saúde (i3S)-Universidade do Porto and Instituto de Biologia Molecular e Celular (IBMC), Porto, Portugal. She is also a Teacher at the PhD Program in Molecular and Cell Biology, University of Porto. She graduated in Pharmaceutical Sciences from the University of Porto. She then pursued her studies in Molecular and Cellular Biology at the University Paris V, France. She obtained her PhD degree in human genetics specializing in disease gene mapping. Her research group focuses on finding genes implicated in neurodegenerative diseases towards development of genetic diagnosis and treatment for these pathologies. She Published 55 articles in international peer-review journals. Has 1 section of a book. Supervised 4 PhD thesis and 5 MSc dissertation(s). Has received 4 awards and/or honors. Participates and/or participated as Principal Investigator in 9 project(s) and Researcher in 1 project. In collaboration with a Galician team (Spain), she was involved in the finding of the GGCCTG repeat expansion in intron 1 of NOP56, causing spinocerebellar ataxia type 36 (SCA36). More recently, her team in collaboration with colleagues from renowned National and International Institutions has identified a non-coding ATTTC repeat insertion in a 5'UTR intron of DAB1 (DAB1, reelin adaptor protein) causing SCA37. They have shown that overexpression of the ATTTC repeat triggers abnormal nuclear RNA accumulation. Her team have also demonstrated that the AUUUC repeat RNA causes lethal developmental malformation when injected in zebrafish embryos. They are currently investigating RNA-mediated mechanisms leading to these diseases and how to rescue them.
Identificação

Identificação pessoal

Nome completo
Isabel Alexandra Azevedo Silveira

Nomes de citação

  • Silveira, Isabel

Identificadores de autor

Ciência ID
3118-E8FC-73CD
ORCID iD
0000-0002-2610-5260

Endereços de correio eletrónico

  • isilveir@ibmc.up.pt (Profissional)

Telefones

Telefone
  • 226074928 (Profissional)
  • 220408800 Ext.: 6167 (Profissional)

Moradas

  • IBMC. Rua Alfredo Allen, 208, 4200-135, Porto, Porto, Portugal (Profissional)

Websites

Domínios de atuação

  • Ciências Médicas e da Saúde - Medicina Básica - Genética Humana
  • Ciências Médicas e da Saúde - Medicina Básica - Neurociências
  • Ciências Naturais - Ciências Biológicas - Biologia Molecular
  • Ciências Naturais - Ciências Biológicas - Genética e Hereditariedade
  • Ciências Naturais - Ciências Biológicas - Biologia do Desenvolvimento

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Inglês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Francês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Formação
Grau Classificação
2004/07 - 2004/07
Concluído
Course in Laboratory Animals (Outros)
Especialização em FELASA C Category Course
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
Aprovada
1997
Concluído
Ciências Biomédicas (Doutoramento)
Especialização em Genética Humana
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Mapeamento Cromossómico da Doença de Machado-Joseph e Heterogeneidade Genética das Ataxias Dominantes" (TESE/DISSERTAÇÃO)
Com Louvor Por Unanimidade
1992
Concluído
Maitrise in Molecular and Cell Biology (Pós-Graduação)
Université Paris Descartes, França
Aprovada
1990
Concluído
Ciências Farmacêuticas (Licenciatura)
Universidade do Porto Faculdade de Farmácia, Portugal
"Patologias do Eritrócito" (TESE/DISSERTAÇÃO)
Aprovada
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento
Empregador
1999/04/01 - 2012/05/31 Investigador Auxiliar (carreira) (Investigação) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento
Empregador
2003/12/01 - 2007/04/30 Professor Auxiliar (Docente Universitário) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Outros

Categoria Profissional
Instituição de acolhimento
Empregador
2014/01/01 - Atual Group Leader Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2013/10/01 - Atual Teacher at the PhD Program Molecular and Cell Biology, ICBAS, FCUP, IBMC Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2012/06/01 - Atual Group Leader Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
1997/12/06 - 1999/03/31 Postdoctoral Fellow Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
1993/11/01 - 1996/05/31 PhD student McGill Centre for Research in Neuroscience, Canadá
McGill Centre for Research in Neuroscience, Canadá
1991/09/01 - 1993/10/31 PhD student Hôpital universitaire Necker-Enfants malades, França
Université Paris Descartes Faculté de Médecine Site Necker, França
1989/12/20 - 1990/07/31 Trainee Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Projetos

Bolsa

Designação Financiadores
2022/01/01 - 2024/02/29 PhasAGE – Excellence Hub on Phase Transitions in Aging and Age-Related Disorders
Investigador
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2018/07/01 - 2022/06/30 Pathogenic Mechanisms and Therapy in a Repeat Disease Caused by a Noncoding Mutation in the DAB1 Gene
FCT, PTDC/MED-GEN/29255/2017.
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2016/05/01 - 2019/12/31 Program in Neurosciences and Neurologic Disease Research Initiative at i3S- WP7. Investigate RNA-mediated pathogenic pathways in neurodegeneration
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluído
2013/06 - 2015/05 Neurodegenerative Disorders. WP Investigating Hereditary Ataxias
NORTE-07-0124-FEDER-000001
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluído
2010/06 - 2013/11 Cognition and synaptic function in calcium channel disease
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2010/04 - 2013/09 Mapping and identification of new disease genes in autosomal dominant spinocerebellar ataxias
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2009/03 - 2012/12 Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2005/04 - 2008/12 Molecular Genetics of Autosomal Dominant Neurodegenerative Diseases Characterized mainly by Ataxia
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2001/09/01 - 2004/08/31 Genetic Study of Migraine
Investigador
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2001/09/01 - 2004/08/31 Genetics and Pathogenic Mechanisms of Dominant Ataxias
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
1999/03/01 - 2001/02/01 Genetics of Dominant Ataxias and Hereditary Spastic Paraplegia
FCT, PRAXIS/SAU/13226/1998
Investigador responsável
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
Produções

Publicações

Artigo em revista
  1. Silveira, Isabel; Bennett, Mark F.. "Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection". Epilepsia 64 S1 (2023): http://dx.doi.org/10.1111/epi.17593.
    10.1111/epi.17593
  2. Figueiredo, Ana S.; Loureiro, Joana R.; Macedo-Ribeiro, Sandra; Silveira, Isabel. "Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase". Cells 12 6 (2023): 826. http://dx.doi.org/10.3390/cells12060826.
    10.3390/cells12060826
  3. Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E.; et al. "Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study". Movement Disorders (2022): http://dx.doi.org/10.1002/mds.29221.
    10.1002/mds.29221
  4. Costa, Bruno; Boueri, Beatriz; Oliveira, Claudia; Silveira, Isabel; Ribeiro, Antonio J.. Autor correspondente: Ribeiro, Antonio J.. "Lipoplexes and polyplexes as nucleic acids delivery nanosystems: The current state and future considerations". Expert Opinion on Drug Delivery 19 5 (2022): 577-594. http://dx.doi.org/10.1080/17425247.2022.2075846.
    10.1080/17425247.2022.2075846
  5. Loureiro, Joana R.; Castro, Ana F.; Figueiredo, Ana S.; Silveira, Isabel. "Molecular Mechanisms in Pentanucleotide Repeat Diseases". Cells 11 2 (2022): 205. http://dx.doi.org/10.3390/cells11020205.
    Publicado • 10.3390/cells11020205
  6. Vasconcelos, M. Helena; Alcaro, Stefano; Arechavala-Gomeza, Virginia; Baumbach, Jan; Borges, Fernanda; Brevini, Tiziana A.L.; Rivas, Javier De Las; et al. "Joining European Scientific Forces to Face Pandemics". Trends in Microbiology 29 2 (2021): 92-97. http://dx.doi.org/10.1016/j.tim.2020.10.008.
    10.1016/j.tim.2020.10.008
  7. Castro, Ana F.; Loureiro, Joana R.; Bessa, José; Silveira, Isabel. "Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries". Genes 11 12 (2020): 1418. http://dx.doi.org/10.3390/genes11121418.
    Publicado • 10.3390/genes11121418
  8. Loureiro, Joana R.; Oliveira, Cláudia L.; Mota, Carolina; Castro, Ana F.; Costa, Cristina; Loureiro, José L.; Coutinho, Paula; et al. "Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution". Human Mutation 40 4 (2019): 404-412. http://dx.doi.org/10.1002/humu.23704.
    10.1002/humu.23704
  9. Loureiro, Joana Rocha; Oliveira, Cláudia Louro; Sequeiros, Jorge; Silveira, Isabel. "A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37". Journal of Human Genetics 63 9 (2018): 981-987. http://dx.doi.org/10.1038/s10038-018-0474-3.
    10.1038/s10038-018-0474-3
  10. Seixas, Ana I.; Loureiro, Joana R.; Costa, Cristina; Ordóñez-Ugalde, Andrés; Marcelino, Hugo; Oliveira, Cláudia L.; Loureiro, José L.; et al. "A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1 , Mapping to SCA37 , Causes Spinocerebellar Ataxia". The American Journal of Human Genetics 101 1 (2017): 87-103. http://dx.doi.org/10.1016/j.ajhg.2017.06.007.
    10.1016/j.ajhg.2017.06.007
  11. Oliveira, Claudia L.; Veiga, Francisco; Varela, Carla; Roleira, Fernanda; Tavares, Elisiário; Silveira, Isabel; Ribeiro, Antonio J.. "Characterization of polymeric nanoparticles for intravenous delivery: Focus on stability". Colloids and Surfaces B: Biointerfaces 150 (2017): 326-333. http://dx.doi.org/10.1016/j.colsurfb.2016.10.046.
    10.1016/j.colsurfb.2016.10.046
  12. Oliveira, Cláudia; Ribeiro, António J.; Veiga, Francisco; Silveira, Isabel. "Recent Advances in Nucleic Acid-Based Delivery: From Bench to Clinical Trials in Genetic Diseases". Journal of Biomedical Nanotechnology 12 5 (2016): 841-862. http://dx.doi.org/10.1166/jbn.2016.2245.
    10.1166/jbn.2016.2245
  13. Loureiro, Joana R.; Oliveira, Claudia L.; Silveira, Isabel. "Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene". Neurobiology of Aging 39 (2016): 174-183. http://dx.doi.org/10.1016/j.neurobiolaging.2015.12.007.
    10.1016/j.neurobiolaging.2015.12.007
  14. Oliveira, Claudia; Silveira, Isabel; Veiga, Francisco; Ribeiro, António J. "Recent advances in characterization of nonviral vectors for delivery of nucleic acids: impact on their biological performance". Expert Opinion on Drug Delivery 12 1 (2014): 27-39. http://dx.doi.org/10.1517/17425247.2014.945421.
    10.1517/17425247.2014.945421
  15. Barros, José; Ruano, Luis; Domingos, Joana; Tuna, Assunção; Damásio, Joana; Alonso, Isabel; Silveira, Isabel; Sequeiros, Jorge; Coutinho, Paula. "The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal". Headache: The Journal of Head and Face Pain 54 5 (2013): 911-915. http://dx.doi.org/10.1111/head.12260.
    10.1111/head.12260
  16. Coutinho, Paula; Ruano, Luis; Loureiro, José L.; Cruz, Vitor T.; Barros, José; Tuna, Assunção; Barbot, Clara; et al. "Hereditary Ataxia and Spastic Paraplegia in Portugal". JAMA Neurology 70 6 (2013): 746-755. http://dx.doi.org/10.1001/jamaneurol.2013.1707.
    Publicado • 10.1001/jamaneurol.2013.1707
  17. Loureiro, José Leal; Brandão, Eva; Ruano, Luis; Brandão, Ana F.; Lopes, Ana M.; Thieleke-Matos, Carolina; Miller-Fleming, Leonor; et al. "Autosomal Dominant Spastic Paraplegias". JAMA Neurology 70 4 (2013): 481-487. http://dx.doi.org/10.1001/jamaneurol.2013.1956.
    Publicado • 10.1001/jamaneurol.2013.1956
  18. Barros, José; Damásio, Joana; Tuna, Assunção; Alves, Ivânia; Silveira, Isabel; Pereira-Monteiro, José; Sequeiros, Jorge; et al. "Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation". JAMA Neurology 70 2 (2013): 235. http://dx.doi.org/10.1001/jamaneurol.2013.591.
    10.1001/jamaneurol.2013.591
  19. García-Murias, María; Quintáns, Beatriz; Arias, Manuel; Seixas, Ana I.; Cacheiro, Pilar; Tarrío, Rosa; Pardo, Julio; et al. "‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization". Brain 135 5 (2012): 1423-1435. http://dx.doi.org/10.1093/brain/aws069.
    10.1093/brain/aws069
  20. Seixas, Ana I.; Holmes, Susan E.; Takeshima, Hiroshi; Pavlovich, Amira; Sachs, Nancy; Pruitt, Jennifer L.; Silveira, Isabel; et al. "Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis". Annals of Neurology 71 2 (2012): 245-257. http://dx.doi.org/10.1002/ana.22598.
    10.1002/ana.22598
  21. Seixas, Ana I; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana M; et al. "FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes". Behavioral and Brain Functions 7 1 (2011): 19. http://dx.doi.org/10.1186/1744-9081-7-19.
    10.1186/1744-9081-7-19
  22. Ramos, Eliana Marisa; Martins, Sandra; Alonso, Isabel; Emmel, Vanessa E.; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Coutinho, Paula; Sequeiros, Jorge; Silveira, Isabel. "Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B 2 (2009): 524-531. http://dx.doi.org/10.1002/ajmg.b.31013.
    10.1002/ajmg.b.31013
  23. Vale, J.; Bugalho, P.; Silveira, I.; Sequeiros, J.; Guimarães, J.; Coutinho, P.. "Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal". European Journal of Neurology 17 1 (2009): 124-128. http://dx.doi.org/10.1111/j.1468-1331.2009.02757.x.
    10.1111/j.1468-1331.2009.02757.x
  24. Loureiro, J.L.; Miller-Fleming, L.; Thieleke-Matos, C.; Magalhães, P.; Cruz, V.T.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families". Acta Neurologica Scandinavica 119 2 (2009): 113-118. http://www.scopus.com/inward/record.url?eid=2-s2.0-58449105920&partnerID=MN8TOARS.
    10.1111/j.1600-0404.2008.01074.x
  25. Marques, J.M.; Alonso, I.; Santos, C.; Silveira, I.; Olsson, I.A.S.. "The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment". Comparative Medicine 59 2 (2009): 129-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-65549099531&partnerID=MN8TOARS.
  26. Almeida, T.; Alonso, I.; Martins, S.; Ramos, E.M.; Azevedo, L.; Ohno, K.; Amorim, A.; et al. "Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)". PLoS ONE 4 2 (2009): http://www.scopus.com/inward/record.url?eid=2-s2.0-84887212387&partnerID=MN8TOARS.
    10.1371/journal.pone.0004553
  27. Alonso, I.; Marques, J.M.; Sousa, N.; Sequeiros, J.; Olsson, I.A.S.; Silveira, I.. "Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant". Neurobiology of Aging 29 11 (2008): 1733-1743. http://www.scopus.com/inward/record.url?eid=2-s2.0-51449092440&partnerID=MN8TOARS.
    10.1016/j.neurobiolaging.2007.04.005
  28. Martins, S.; Coutinho, P.; Silveira, I.; Giunti, P.; Jardim, L.B.; Calafell, F.; Sequeiros, J.; Amorim, A.. "Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease". American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 147 4 (2008): 439-446. http://www.scopus.com/inward/record.url?eid=2-s2.0-45149108691&partnerID=MN8TOARS.
    10.1002/ajmg.b.30624
  29. Prestes, P.R.; Saraiva-pereira, M.L.; Silveira, I.; Sequeiros, J.; Jardim, L.B.. "Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population". Annals of Human Genetics 72 1 (2008): 57-64. http://www.scopus.com/inward/record.url?eid=2-s2.0-37849028591&partnerID=MN8TOARS.
    10.1111/j.1469-1809.2007.00388.x
  30. Martins, S.; Calafell, F.; Gaspar, C.; Wong, V.C.N.; Silveira, I.; Nicholson, G.A.; Brunt, E.R.; et al. "Asian origin for the worldwide-spread mutational event in Machado-Joseph disease". Archives of Neurology 64 10 (2007): 1502-1508. http://www.scopus.com/inward/record.url?eid=2-s2.0-35348877394&partnerID=MN8TOARS.
    10.1001/archneur.64.10.1502
  31. Trott, A.; Jardim, L.B.; Ludwig, H.T.; Saute, J.A.M.; Artigalás, O.; Kieling, C.; Wanderley, H.Y.C.; et al. "Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]". Clinical Genetics 70 2 (2006): 173-176. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745827039&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2006.00656.x
  32. Holmes, S.E.; Wentzell, J.S.; Seixas, A.I.; Callahan, C.; Silveira, I.; Ross, C.A.; Margolis, R.L.. "A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array". Human Genetics 120 2 (2006): 193-200. http://www.scopus.com/inward/record.url?eid=2-s2.0-33747014342&partnerID=MN8TOARS.
    10.1007/s00439-006-0207-0
  33. Cecchin, C.R.; Pires, A.P.; Rieder, C.R.; Monte, T.L.; Silveira, I.; Carvalho, T.; Saraiva-Pereira, M.L.; Sequeiros, J.; Jardim, L.B.. "Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives". Community Genetics 10 1 (2006): 19-26. http://www.scopus.com/inward/record.url?eid=2-s2.0-33845774797&partnerID=MN8TOARS.
    10.1159/000096276
  34. Alonso, I.; Jardim, L.B.; Artigalas, O.; Saraiva-Pereira, M.L.; Matsuura, T.; Ashizawa, T.; Sequeiros, J.; Silveira, I.. "Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10". Neurology 66 10 (2006): 1602-1604. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745373901&partnerID=MN8TOARS.
    10.1212/01.wnl.0000216266.30177.bb
  35. Martins, S.; Seixas, A.I.; Magalhães, P.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Haplotype diversity and somatic instability in normal and expanded SCA8 alleles". American Journal of Medical Genetics - Neuropsychiatric Genetics 139 B 1 (2005): 109-114. http://www.scopus.com/inward/record.url?eid=2-s2.0-27644506104&partnerID=MN8TOARS.
    10.1002/ajmg.b.30235
  36. Seixas, A.I.; Maurer, M.H.; Lin, M.; Callahan, C.; Ahuja, A.; Matsuura, T.; Ross, C.A.; et al. "FXTAS, SCA10, and SCA17 in American patients with movement disorders [1]". American Journal of Medical Genetics 136 A 1 (2005): 87-89. http://www.scopus.com/inward/record.url?eid=2-s2.0-21644486998&partnerID=MN8TOARS.
    10.1002/ajmg.a.30761
  37. Alonso, I.; Costa, C.; Gomes, A.; Ferro, A.; Seixas, A.I.; Silva, S.; Cruz, V.T.; et al. "A novel H101Q mutation causes PKC¿ loss in spinocerebellar ataxia type 14". Journal of Human Genetics 50 10 (2005): 523-529. http://www.scopus.com/inward/record.url?eid=2-s2.0-27644562111&partnerID=MN8TOARS.
    10.1007/s10038-005-0287-z
  38. Alonso, I.; Barros, J.; Tuna, A.; Seixas, A.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel a1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6]". Clinical Genetics 65 1 (2004): 70-72. http://www.scopus.com/inward/record.url?eid=2-s2.0-1642555626&partnerID=MN8TOARS.
    10.1111/j..2004.00187.x
  39. Monte, T.L.; Rieder, C.R.M.; Tort, A.B.; Rockenback, I.; Pereira, M.L.; Silveira, I.; Ferro, A.; Sequeiros, J.; Jardim, L.B.. "Use of fluoxetine for treatment of Machado-Joseph disease: An open-label study". Acta Neurologica Scandinavica 107 3 (2003): 207-210. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037356081&partnerID=MN8TOARS.
    10.1034/j.1600-0404.2003.02132.x
  40. Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeiros, J.; Silveira, I.; Coutinho, P.. "Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family". Archives of Neurology 60 4 (2003): 610-614. http://www.scopus.com/inward/record.url?eid=2-s2.0-0344406276&partnerID=MN8TOARS.
    10.1001/archneur.60.4.610
  41. Martins, S.; Matamá, T.; Guimarães, L.; Vale, J.; Guimarães, J.; Ramos, L.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin". European Journal of Human Genetics 11 10 (2003): 808-811. http://www.scopus.com/inward/record.url?eid=2-s2.0-0242382682&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5201054
  42. Jardim, L.; Silveira, I.; Pereira, M.L.; Do Céu Moreira, M.; Mendonça, P.; Sequeiros, J.; Giugliani, R.. "Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype". Acta Neurologica Scandinavica 107 3 (2003): 211-214. http://www.scopus.com/inward/record.url?eid=2-s2.0-0344838660&partnerID=MN8TOARS.
    10.1034/j.1600-0404.2003.00046.x
  43. Silveira, I.; Miranda, C.; Guimaraes, L.; Moreira, M.-C.; Alonso, I.; Mendonça, P.; Ferro, A.; et al. "Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG) n allele at the SCA17 locus". Archives of Neurology 59 4 (2002): 623-629. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036220140&partnerID=MN8TOARS.
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    10.1034/j.1600-0404.2001.00020.x
  45. Jardim, L.B.; Silveira, I.; Pereira, M.L.; Ferro, A.; Alonso, I.; Do Céu Moreira, M.; Mendonça, P.; et al. "A survey of spinocerebellar ataxia South Brazil - 66 New cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations". Journal of Neurology 248 10 (2001): 870-876. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034787294&partnerID=MN8TOARS.
    10.1007/s004150170072
  46. Gaspar, C.; Lopes-Cendes, I.; Hayes, S.; Goto, J.; Arvidsson, K.; Dias, A.; Silveira, I.; et al. "Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study". American Journal of Human Genetics 68 2 (2001): 523-528. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035125109&partnerID=MN8TOARS.
    10.1086/318184
  47. Jardim, L.B.; Pereira, M.L.; Silveira, I.; Ferro, A.; Sequeiros, J.; Giugliani, R.. "Neurologic findings in Machado-Joseph disease: Relation with disease duration, subtypes, and (CAG)n". Archives of Neurology 58 6 (2001): 899-904. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034971210&partnerID=MN8TOARS.
    DOI: 10.1001/archneur.58.6.899
  48. Silveira, I.; Alonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Fidalgo de Matos, J.M.; et al. "High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles". American Journal of Human Genetics 66 3 (2000): 830-840. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033925737&partnerID=MN8TOARS.
    10.1086/302827
  49. Silveira, I.; Coutinho, P.; Maciel, P.; Gaspar, C.; Hayes, S.; Dias, A.; Guimarães, J.; et al. "Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese Ataxia families". American Journal of Medical Genetics - Neuropsychiatric Genetics 81 2 (1998): 134-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032574472&partnerID=MN8TOARS.
    10.1002/(SICI)1096-8628(19980328)81:2<134::AID-AJMG3>3.0.CO;2-W
  50. Shinotoh, H.; Thiessen, B.; Snow, B.J.; Hashimoto, S.; MacLeod, P.; Silveira, I.; Rouleau, G.A.; Schulzer, M.; Calne, D.B.. "Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease". Neurology 49 4 (1997): 1133-1136. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030697247&partnerID=MN8TOARS.
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  52. Silveira, I.; Lopes-Cendes, I.; Kish, S.; Maciel, P.; Gaspar, C.; Coutinho, P.; Botez, M. I.; et al. "Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients". Neurology 46 1 (1996): 214-218. http://dx.doi.org/10.1212/wnl.46.1.214.
    DOI: https://doi.org/10.1212/WNL.46.1.214
  53. Gaspar, C.; Lopes-Cendes, I.; DeStefano, A.L.; Maciel, P.; Silveira, I.; Coutinho, P.; MacLeod, P.; et al. "Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins". Human Genetics 98 5 (1996): 620-624. http://www.scopus.com/inward/record.url?eid=2-s2.0-10544251065&partnerID=MN8TOARS.
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  54. Lopes-Cendes, I.; Silveira, I.; Maciel, P.; Gaspar, C.; Radvany, J.; Chitayat, D.; Babul, R.; et al. "Limits of clinical assessment in the accurate diagnosis of Machado- Joseph disease". Archives of Neurology 53 11 (1996): 1168-1174. http://www.scopus.com/inward/record.url?eid=2-s2.0-10344262014&partnerID=MN8TOARS.
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  55. Lopes-Cendes, I.; Steiner, C.E.; Silveira, I.; Pinto Jr., W.; Maciel, J.A.; Rouleau, G.A.. "Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1". Arquivos de Neuro-Psiquiatria 54 3 (1996): 412-418. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030225236&partnerID=MN8TOARS.
  56. Lopes-Cendes, I.; Maciel, P.; Kish, S.; Gaspar, C.; Robitaille, Y.; Brent Clark, H.; Koeppen, A.H.; et al. "Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease". Annals of Neurology 40 2 (1996): 199-206. http://www.scopus.com/inward/record.url?eid=2-s2.0-9444262436&partnerID=MN8TOARS.
    10.1002/ana.410400211
  57. Maciel, P.; Gaspar, C.; DeStefano, A.L.; Silveira, I.; Coutinho, P.; Radvany, J.; Dawson, D.M.; et al. "Correlation between CAG repeat length and clinical features in Machado-Joseph disease". American Journal of Human Genetics 57 1 (1995): 54-61. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029047109&partnerID=MN8TOARS.
  58. Sequeiros, J.; Silveira, I.; Maciel, P.; Coutinho, P.; Manaia, A.; Gaspar, C.; Burlet, P.; et al. "Genetic linkage studies of machado-joseph disease with chromosome 14q STRPs in 16 portuguese-azorean kindreds". Genomics 21 3 (1994): 645-648. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028291077&partnerID=MN8TOARS.
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  59. Silveira, I.; Manaia, A.; Melki, J.; Magariño, C.; Lunkes, A.; Hernandez, A.; Gispert, S.; et al. "Machado-joseph disease is genetically different from holguin dominant ataxia (sca2)". Genomics 17 3 (1993): 556-559. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027180041&partnerID=MN8TOARS.
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Capítulo de livro
  1. Sequeiros, Jorge; Martins, Sandra; Silveira, Isabel. "Epidemiology and population genetics of degenerative ataxias". In Handbook of Clinical Neurology, 227-251. Elsevier, 2012.
    10.1016/b978-0-444-51892-7.00014-0
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2023/10/18 Understanding the Role of the Non-coding Genome in Neurodegenerative Diseases III PhasAGE International Conference, Porto
III PhasAGEage International Conference, Porto (Porto, Portugal)
2023/06/20 Genetics of Cognitive Dysfunction Group Main Findings and Objectives Kick-Off Meeting of the NCBio
i3S, University of Porto (Porto, Portugal)
2022/09/24 Genetics of Spinocerebellar Ataxias and Challenges for Treatment (Invited Talk) I National Conference in Ataxias, APAHE, Portugal
Portuguese Associatian of Hereditary Ataxias, APAHE, Portugal (Coimbra, Portugal)
2022/05/28 Emerging Pentanucleotide Related Disorder: the SCA37 model (Invited Talk) International Workshop on Familial Adult Myoclonic Epilepsy
FAME/BAFME Italian Consortium (Naples, Itália)
2022/03/25 30 Years of Spinocerebellar Ataxia Genetics and Challenges for Treatment (Invited Talk) National Conferences in Biomedical Sciences,
University of Algarve (Faro, Portugal)
2021/10/07 Unraveling Neurodegenerative Disease Molecular Mechanisms and the Mysteries of the Human Genome i3S Group Leaders Seminars
i3S-University of Porto (Porto, Portugal)
2019/11/29 A Non-coding Repeat Insertion and Neurodegenerative Disease (Invited Talk) 8th i3S Annual Meeting
8th i3S Annual Meeting (Póvoa de Varzim, Portugal)
2019/09/21 A noncoding repeat insertion causes spinocerebellar ataxia type 37 (Invited Talk) Spatax- 6th International Meeting on Spastic Paraparesis and Ataxia, September 20 and 21st
Spatax meeting organizing committee (Nice, França)
2019/05/16 The birth of pathogenic repeat insertions and human disease (i3S Seminar) Neurobiology and Neurologic diseases Seminars
Program in Neurobiology and Neurologic Diseases (Porto, Portugal)
2018/06/29 Another Repeat Insertion Causing Ataxia (Invited Talk) II SCA36 International Symposium, Cabana de Bergantiños
Sercizo Galego de Saúde (Cabana de Bergantinos, Galiza, Espanha)
2018/06/18 Non-coding repeat Insertion in Human Disease (Invited Talk) Annual Meeting of the European Society of Human Genetics (ESHG), Milan, Italy
European Society of Human Genetics (Milan, Itália)
2018/03/22 A non-coding repeat insertion in DAB1 causes the neurodegenerative disease SCA37 (Invited Talk) Portugaliae Genetica
i3S, University of Porto (Porto, Portugal)
2017/11/23 A Pentanucleotide Repeat Insertion in the Non-coding region of DAB1 causes Spinocerebellar Ataxia type 37 (i3S Talk) Seminars in Neurobiology and Neurological Diseases
i3S, University of Porto (porto)
2016/07/14 (Un) Translated Repeat Expansions Causing Neurodegeneration (i3S Talk) Seminars in Neurobiology and Neurologic Diseases
i3S, University of Porto (Porto, Portugal)

Orientação

Título / Tema
Papel desempenhado
Curso (Tipo)
Instituição / Organização
2021/12/01 - Atual Molecular Mechanisms and Therapy in Neurodegenerative Pentanucleotide Repeat Diseases
Orientador de Ana Sofia Tavares Figueiredo
Biologia Molecular e Celular (Doutoramento)
Universidade do Porto, Portugal
2020/01/02 - Atual Antisense Expression of the Repeat Insertion in Spinocerebellar ataxia type 37 and Implications for Therapy
Orientador de Ana Filipa Azevedo Castro
Biologia Molecular e Celular (Doutoramento)
Universidade do Porto, Portugal
2023/09/05 - 2024/11/30 Behavioural Changes in a Zebrafish Model of Spinocerebellar Ataxia Type 37
Orientador de Nadine Almeida Peixoto
Molecular Genetics (Mestrado)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2020/09 - 2022/01/21 Investigation of Non-AUG Dependent Pentanucleotide Repeat Translation in SCA37
Orientador
Master in Molecular Biomedicine (Mestrado)
Universidade de Aveiro, Portugal
2020/09 - 2021/11/25 Brain Expression of the DAB1 Repeat Region Causing SCA37
Orientador de Catarina Silva Viegas
Master in Neurobiology (Mestrado)
Universidade do Porto, Portugal
2019/09 - 2021/01/12 Relevance of epigenetics in the pathogenic mechanism of SCA37
Orientador de Ana Sofia Tavares Figueiredo
Mestrado em genética Molecular e Biomedicina (Mestrado)
Universidade Nova de Lisboa, Portugal
2018/09/10 - 2020/09/23 Role of Repeat Instability and Somatic Mosaicism in the Neurodegenerative Disease SCA37
Orientador de Rita Ratola
Bioquímica para a Saúde (Mestrado)
Universidade Nova de Lisboa, Portugal
2013/10/01 - 2019/02/21 Non-coding Repeat Insertion and RNA-mediated Neurodegeneration
Orientador de Joana Maria Geraldes da Rocha Loureiro
Ciências Biológicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017/09 - 2018/11 Antisense Expression Across the Repeat Insertion in DAB1 and Relevance for the Pathogenic Mechanism of SCA37
Orientador de Ana Filipa Azevedo Castro
Mestrado Biologia Celular e Molecular (Mestrado)
Universidade do Porto Faculdade de Ciências, Portugal
2011/12 - 2012/12 Cognition and synaptic function in calcium channel disease
Orientador
Postdoctoral (Outra)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2011/01 - 2012/04 Mapping and Identification of new genes in autosomal dominant spinocerebellar ataxia
Orientador de Ana Isabel Barreira Seixas
Postdoctoral (Outra)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2004/06/01 - 2010/12/03 Movement disorders caused by triplet repeat expansions: genetics and pathogenic mechanisms.
Orientador de Ana Isabel Barreira Seixas
Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2000/09/01 - 2006/12/05 Molecular Characterization and Pathogenic Mechanism Involved in Dominant Ataxias
Orientador de Isabel da Conceição Moreira Pereira Alonso
Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2000/01/02 - 2006/02/17 Molecular Genetics and Pathogenetic Mechanism of Hereditary Spastic Paraplegias
Orientador de Maria de Fátima de Oliveira Ferreirinha,
Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação)
Instituição / Organização
2006/07 - 2012/07 Science and Society. Receiving high school students during a summer week, from the program Health School, Junior University, University of Porto. (2006/07 - 2012/07)
Oficina (workshop) (Coorganizador)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Arbitragem científica em revista

Nome da revista (ISSN) Editora
2021/03/25 - Atual Cells (2073-4409) MDPI

Comissão de avaliação

Descrição da atividade
Tipo de assessoria
Instituição / Organização Entidade financiadora
2021/03/15 - 2021/04/10 External Grant Reviewer, National Science Center, Poland
Avaliador
Poland National Science Center, Polónia Poland National Science Center
2020/03/04 - 2020/03/20 External Reviewer, Research Grants Council, Hong Kong
Avaliador
Research Grants Council, Hong Kong Research Grants Council
2019/02/09 - 2019/02/20 External Reviewer, Research Grants Council, Hong Kong
Avaliador
Research Grants Council, Hong Kong Research Grants Council
2018/06/30 - 2018/07/31 External Grant Reviewer, Medical Research Council, United Kingdom
Avaliador
Medical Research Council, Reino Unido Medical Research Council
2016/03/01 - 2016/03/30 External Grant Reviewer, National Science Center, Poland
Avaliador
Poland National Science Center, Polónia Poland National Science Center
2013/09/30 - 2015/04/30 Evaluation Panel Member of Individual applications for PhD scholarships, FCT (Fundação para a Ciência e Tecnologia), Portugal
Avaliador
Fundação para a Ciência e a Tecnologia, Portugal Fundação para a Ciência e a Tecnologia
2012/04/01 - 2012/06/30 External Grant Reviewer Telethon, Italy
Avaliador
Fondazione Telethon, Itália Fondazione Telethon
2009/04/01 - 2009/06/30 External Grant Reviewer Telethon, italy
Avaliador
Fondazione Telethon, Itália Fondazione Telethon

Membro de associação

Nome da associação Tipo de participação
2013/01/02 - Atual Society for Neuroscience, USA Member
2000/01/02 - Atual European Society of Human Genetics Member
1994/01/01 - Atual American Society of Human Genetics, USA Member

Membro de comissão

Descrição da atividade
Tipo de participação
Instituição / Organização
2019/06/01 - Atual Committee for Ethical and Responsible Conduct of Research
Membro
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2013/04/01 - 2015/07/01 Human Ethics Committee IBMC.INEB
Presidente / Vice-presidente
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2011/07/01 - 2014/04/01 IBMC Executive Committee
Membro
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Distinções

Outra distinção

2004 2º Prémio Tecnifar de Cefaleias
2003 Prémio Tecnifar de Cefaleias
2000 Prémio Tecnifar/Sociedade Portuguesa de Cefaleias
1997 Menção Honrosa, prémio Jacinto de Magalhães