| Correlation between CAG repeat length and clinical features in Machado-Joseph disease P Maciel, C Gaspar, AL DeStefano, I Silveira, P Coutinho, J Radvany, ... American journal of human genetics 57 (1), 54, 1995 | 399 | 1995 |
| Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG) n allele at the SCA17 locus I Silveira, C Miranda, L Guimaraes, MC Moreira, I Alonso, P Mendonca, ... Archives of neurology 59 (4), 623-629, 2002 | 204 | 2002 |
| Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG) n LB Jardim, ML Pereira, I Silveira, A Ferro, J Sequeiros, R Giugliani Archives of neurology 58 (6), 899-904, 2001 | 196 | 2001 |
| Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study C Gaspar, I Lopes-Cendes, S Hayes, J Goto, K Arvidsson, A Dias, ... The American Journal of Human Genetics 68 (2), 523-528, 2001 | 178 | 2001 |
| Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study P Coutinho, L Ruano, JL Loureiro, VT Cruz, J Barros, A Tuna, C Barbot, ... JAMA neurology 70 (6), 746-755, 2013 | 163 | 2013 |
| Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients I Silveira, I Lopes-Cendes, S Kish, P Maciel, C Gaspar, P Coutinho, ... Neurology 46 (1), 214-218, 1996 | 141 | 1996 |
| A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia AI Seixas, JR Loureiro, C Costa, A Ordóñez-Ugalde, H Marcelino, ... The American Journal of Human Genetics 101 (1), 87-103, 2017 | 139 | 2017 |
| A survey of spinocerebellar ataxia in South Brazil–66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations LB Jardim, I Silveira, ML Pereira, A Ferro, I Alonso, M do Céu Moreira, ... Journal of neurology 248 (10), 870-876, 2001 | 129 | 2001 |
| Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family I Alonso, J Barros, A Tuna, J Coelho, J Sequeiros, I Silveira, P Coutinho Archives of neurology 60 (4), 610-614, 2003 | 118 | 2003 |
| ‘Costa da Morte’ataxia is spinocerebellar ataxia 36: clinical and genetic characterization M García-Murias, B Quintans, M Arias, AI Seixas, P Cacheiro, R Tarrío, ... Brain 135 (5), 1423-1435, 2012 | 110 | 2012 |
| Epidemiology and population genetics of degenerative ataxias J Sequeiros, S Martins, I Silveira Handbook of clinical neurology 103, 227-251, 2011 | 106 | 2011 |
| Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal J Vale, P Bugalho, I Silveira, J Sequeiros, J Guimaraes, P Coutinho European journal of neurology 17 (1), 124-128, 2010 | 101 | 2010 |
| Asian origin for the worldwide-spread mutational event in Machado-Joseph disease S Martins, F Calafell, C Gaspar, VCN Wong, I Silveira, GA Nicholson, ... Archives of neurology 64 (10), 1502-1508, 2007 | 92 | 2007 |
| Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado‐Joseph disease I Lopes‐Cendes, P Maciel, S Kish, C Gaspar, I Silveira, Y Robitaille, ... Annals of Neurology: Official Journal of the American Neurological …, 1996 | 85 | 1996 |
| Loss of junctophilin‐3 contributes to huntington disease‐like 2 pathogenesis AI Seixas, SE Holmes, H Takeshima, A Pavlovich, N Sachs, JL Pruitt, ... Annals of neurology 71 (2), 245-257, 2012 | 82 | 2012 |
| Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families I Silveira, P Coutinho, P Maciel, C Gaspar, S Hayes, A Dias, J Guimaraes, ... American journal of medical genetics 81 (2), 134-138, 1998 | 81 | 1998 |
| High germinal instability of the (CTG) n at the SCA8 locus of both expanded and normal alleles I Silveira, I Alonso, L Guimaraes, P Mendonça, C Santos, P Maciel, ... The American Journal of Human Genetics 66 (3), 830-840, 2000 | 80 | 2000 |
| A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q‐type calcium‐channel α1A‐subunit in a family with progressive cerebellar ataxia and … I Alonso, J Barros, A Tuna, A Seixas, P Coutinho, J Sequeiros, I Silveira Clinical genetics 65 (1), 70-72, 2004 | 79 | 2004 |
| Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives CR Cecchin, AP Pires, CR Rieder, TL Monte, I Silveira, T Carvalho, ... Public Health Genomics 10 (1), 19-26, 2007 | 75 | 2007 |
| Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey JL Loureiro, E Brandão, L Ruano, AF Brandao, AM Lopes, ... JAMA neurology 70 (4), 481-487, 2013 | 66 | 2013 |
Jorge SequeirosICBAS; UnIGENe and CGPP, IBMC / i3S; Universidade do Porto在 ibmc.up.pt 的电子邮件经过验证
