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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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Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
José Leal Loureiro,Eva Brandão,Luis Ruano,Ana Filipa Brandão,Ana Margarida Lopes,Carolina Thieleke-Matos,Leonor Miller-Fleming,Vítor Tedim Cruz,Mafalda Barbosa,Isabel Silveira,Giovanni Stevanin,Jorge Pinto-Basto,Jorge Sequeiros,Isabel Alonso,Paula Coutinho +14 more
TL;DR: The most interesting aspects of this study are that even in patients with early-onset disease the probability of finding a SPG4 mutation was higher than for patients with SPG3 mutations, and there was no difference in disease progression with genotype but an association with the age at onset.
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Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).
Teresa Almeida,Isabel Alonso,Sandra Martins,Eliana Marisa Ramos,Luísa Azevedo,Kinji Ohno,António Amorim,Maria Luiza Saraiva-Pereira,Laura Bannach Jardim,Tohru Matsuura,Jorge Sequeiros,Jorge Sequeiros,Isabel Silveira +12 more
TL;DR: Evidence is shown for an ancestral common origin for SCA10 in Latin America, which might have arisen in an ancestral Amerindian population and later have been spread into the mixed populations of Mexico and Brazil.
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Machado–Joseph disease in South Brazil: clinical and molecular characterization of kindreds
Laura Bannach Jardim,Maria Luiza Saraiva Pereira,Isabel Silveira,Anabela Ferro,Jorge Sequeiros,Roberto Giugliani +5 more
TL;DR: The Brazilian origin seemed to affect the age of onset of a group of MJD patients recently identified in the southernmost state of Brazil, and the question of maintaining or not subtypes 2 and 3 separated among patients with genetic and geographical backgrounds like the presented patients was addressed.
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Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study.
Thais Lampert Monte,Carlos Roberto de Mello Rieder,Adriano B. L. Tort,I. Rockenback,Maria Lúcia Duarte Pereira,Isabel Silveira,Anabela Ferro,Jorge Sequeiros,Laura Bannach Jardim +8 more
TL;DR: Context – Machado‐Joseph Disease (MJD/SCA3) is an autosomal dominant spinocerebellar degeneration that evolves to disability and death and experimental data have shown that serotonin is an important cerebellar neurotransmitter and that impairment of the serotoninergic Cerebellar system can induce cerebellary ataxia.
Journal ArticleDOI
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.
Jorge Sequeiros,Isabel Silveira,Patrícia Maciel,Paula Coutinho,Alexandra Manaia,Claudia Gaspar,Philippe Burlet,Leal Loureiro,João Guimarães,Hajime Tanaka,Yoshihisa Takiyama,Hirosuke Sakamoto,Masatoyo Nishizawa,Yoshiko Nomura,Masaya Segawa,Shoji Tsuji,Judith Melki,Arnold Munnich +17 more
TL;DR: It is suggested that the MJD locus is linked to chromosome 14q in this population, and differences in age-at-onset and many untyped individuals seem to explain the lower lod scores.