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Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.
Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA. Silveira I, et al. Neurology. 1996 Jan;46(1):214-8. doi: 10.1212/wnl.46.1.214. Neurology. 1996. PMID: 8559378
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.
Lopes-Cendes I, Silveira I, Maciel P, Gaspar C, Radvany J, Chitayat D, Babul R, Stewart J, Dolliver M, Robitaille Y, Rouleau GA, Sequeiros J. Lopes-Cendes I, et al. Among authors: silveira i. Arch Neurol. 1996 Nov;53(11):1168-74. doi: 10.1001/archneur.1996.00550110120020. Arch Neurol. 1996. PMID: 8912491
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Gaspar C, et al. Among authors: silveira i. Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20. Am J Hum Genet. 2001. PMID: 11133357 Free PMC article.
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.
Lopes-Cendes I, Teive HG, Calcagnotto ME, Da Costa JC, Cardoso F, Viana E, Maciel JA, Radvany J, Arruda WO, Trevisol-Bittencourt PC, Rosa Neto P, Silveira I, Steiner CE, Pinto Júnior W, Santos AS, Correa Neto Y, Werneck LC, Araújo AQ, Carakushansky G, Mello LR, Jardim LB, Rouleau GA. Lopes-Cendes I, et al. Among authors: silveira i. Arq Neuropsiquiatr. 1997 Sep;55(3B):519-29. doi: 10.1590/s0004-282x1997000400001. Arq Neuropsiquiatr. 1997. PMID: 9629399
287 results