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| 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 | 194 | 2001 |
| 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, 870-876, 2001 | 128 | 2001 |
| Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes RM de Castilhos, GV Furtado, TC Gheno, P Schaeffer, A Russo, ... The Cerebellum 13, 17-28, 2014 | 126 | 2014 |
| Survival estimates for patients with Machado–Joseph disease (SCA3) C Kieling, PR Prestes, ML Saraiva‐Pereira, LB Jardim Clinical genetics 72 (6), 543-545, 2007 | 105 | 2007 |
| Nonmotor and extracerebellar features in Machado‐Joseph disease: a review JL Pedroso, MC Franca Jr, P Braga‐Neto, A D'Abreu, ML Saraiva‐Pereira, ... Movement Disorders 28 (9), 1200-1208, 2013 | 102 | 2013 |
| A Regulatory Element in Intron 1 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene (∗) AN Smith, ML Barth, TL McDowell, DS Moulin, HN Nuthall, ... Journal of Biological Chemistry 271 (17), 9947-9954, 1996 | 95 | 1996 |
| A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3) C Kieling, CRM Rieder, ACF Silva, JAM Saute, CR Cecchin, TL Monte, ... European journal of neurology 15 (4), 371-376, 2008 | 85 | 2008 |
| A randomized, phase 2 clinical trial of lithium carbonate in Machado‐Joseph disease JAM Saute, RM de Castilhos, TL Monte, AF Schumacher‐Schuh, ... Movement Disorders 29 (4), 568-573, 2014 | 80 | 2014 |
| 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, 2006 | 77 | 2006 |
| Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases A Wajner, K Michelin, MG Burin, RF Pires, MLS Pereira, R Giugliani, ... Clinical biochemistry 37 (10), 893-897, 2004 | 73 | 2004 |
| Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions MP Socal, VE Emmel, CRM Rieder, A Hilbig, ML Saraiva-Pereira, ... Parkinsonism & related disorders 15 (5), 374-378, 2009 | 64 | 2009 |
| Progression rate of neurological deficits in a 10-year cohort of SCA3 patients LB Jardim, L Hauser, C Kieling, JAM Saute, R Xavier, CRM Rieder, ... The Cerebellum 9, 419-428, 2010 | 61 | 2010 |
| The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease C Bettencourt, M Raposo, N Kazachkova, T Cymbron, C Santos, T Kay, ... Archives of neurology 68 (12), 1580-1583, 2011 | 60 | 2011 |
| Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. ML Barth, C Ward, A Harris, A Saad, A Fensom Journal of medical genetics 31 (9), 667-671, 1994 | 56 | 1994 |
| Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. MB Viana, R Giugliani, VH Leite, ML Barth, C Lekhwani, CM Slade, ... Journal of medical genetics 27 (8), 499-504, 1990 | 53 | 1990 |
| Body mass index is inversely correlated with the expanded CAG repeat length in SCA3/MJD patients JAM Saute, ACF da Silva, GN Souza, AD Russo, KC Donis, L Vedolin, ... The Cerebellum 11, 771-774, 2012 | 52 | 2012 |
| Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach D Burguez, M Polese-Bonatto, LAJ Scudeiro, I Björkhem, L Schöls, ... Journal of the Neurological Sciences 383, 18-25, 2017 | 51 | 2017 |
| Molecular characterization of phenylketonuria in South Brazil LCS da Silva, TS Carvalho, FB da Silva, L Morari, AA Fachel, R Pires, ... Molecular genetics and metabolism 79 (1), 17-24, 2003 | 51 | 2003 |
| Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain ML Barth, A Fensom, A Harris Human genetics 91, 73-77, 1993 | 51 | 1993 |
Laura Bannach JardimProfessora da Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, e Serviço de在 hcpa.edu.br 的电子邮件经过验证
