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Isabel Silveira
Researcher at University of Porto
Publications - 64
Citations - 2863
Isabel Silveira is an academic researcher from University of Porto. The author has contributed to research in topics: Spinocerebellar ataxia & Machado–Joseph disease. The author has an hindex of 31, co-authored 59 publications receiving 2599 citations. Previous affiliations of Isabel Silveira include Instituto de Biologia Molecular e Celular & McGill University.
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Journal Article
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
Patrícia Maciel,Patrícia Maciel,Claudia Gaspar,Claudia Gaspar,Anita L. DeStefano,Isabel Silveira,Isabel Silveira,Paula Coutinho,João Radvany,David M. Dawson,David M. Dawson,Lewis Sudarsky,Lewis Sudarsky,João Guimarães,José Leal Loureiro,Marjan M. Nezarati,Lee I. Corwin,Iscia Lopes-Cendes,Karen Rooke,Roger N. Rosenberg,Patrick MacLeod,Lindsay A. Farrer,Jorge Sequeiros,Guy A. Rouleau +23 more
TL;DR: There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions.
Journal ArticleDOI
Trinucleotide Repeats in 202 Families With Ataxia: A Small Expanded (CAG)n Allele at the SCA17 Locus
Isabel Silveira,Carlos Henrique Miranda,Carlos Henrique Miranda,Laura Guimarães,M-C Moreira,Isabel Alonso,P. Mendonça,Anabela Ferro,Jorge Pinto-Basto,Joel Coelho,Fátima Ferreirinha,John Poirier,E Parreira,José Vale,Cristina Januário,Clara Barbot,Assunção Tuna,João Paulo Pereira Barros,Reiji Koide,Shoji Tsuji,Susan E. Holmes,Russell L. Margolis,Laura Bannach Jardim,Massimo Pandolfo,Paula Coutinho,Jorge Sequeiros +25 more
TL;DR: A significant number of isolated cases of ataxia are due to TNR expansions; expanded DRPLA alleles in Portuguese families may have evolved from an ancestral haplotype; and small (CAG)(n) expansions at the TBP gene may cause SCA17.
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Neurologic findings in Machado-Joseph disease : Relation with disease duration, subtypes, and (CAG)n
Laura Bannach Jardim,Maria Luiza Saraiva Pereira,Isabel Silveira,Anabela Ferro,Jorge Sequeiros,Roberto Giugliani +5 more
TL;DR: Disease duration can explain part of the heterogeneity of ataxia, dysarthria, dysphagia, fasciculations, pyramidal syndrome, and ophthalmoplegia, in MJD.
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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
Claudia Gaspar,Claudia Gaspar,Iscia Lopes-Cendes,S. Hayes,Jun Goto,K. Arvidsson,Ana I. Dias,Ana I. Dias,Isabel Silveira,Isabel Silveira,Patrícia Maciel,Patrícia Maciel,Paula Coutinho,Manuela Lima,Y.-X. Zhou,Bing-Wen Soong,Mitsunori Watanabe,Paola Giunti,Giovanni Stevanin,Olaf Riess,Hidenao Sasaki,Mingli Hsieh,Garth A. Nicholson,Ewout R. Brunt,J.J. Higgins,M. Lauritzen,Lisbeth Tranebjærg,Victor Volpini,Nicholas W. Wood,Laura P.W. Ranum,Shoji Tsuji,Alexis Brice,Jorge Sequeiros,Guy A. Rouleau +33 more
TL;DR: The findings suggest two introductions of the mutation into the Portuguese population through linkage-disequilibrium analysis of tightly linked polymorphisms and by haplotype comparison, in 249 families from different countries.
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Hereditary Ataxia and Spastic Paraplegia in Portugal: A Population-Based Prevalence Study
Paula Coutinho,Luis Ruano,José Leal Loureiro,Vítor Tedim Cruz,José Barros,Assunção Tuna,Clara Barbot,João Tiago Guimarães,Isabel Alonso,Isabel Silveira,Jorge Sequeiros,José Marques Neves,P.M. Serrano,M. Carolina Silva +13 more
TL;DR: This population-based, nationwide, systematic survey covered all the Portuguese territory and mobilized most general practitioners and health centers and was the largest ever performed for HCA and HSP.