Silveira I - Search Results

1

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

Barros J, Damásio J, Tuna A, Alves I, Silveira I, Pereira-Monteiro J, Sequeiros J, Alonso I, Sousa A, Coutinho P. Barros J, et al. Among authors: silveira i. JAMA Neurol. 2013 Feb;70(2):235-40. doi: 10.1001/jamaneurol.2013.591. JAMA Neurol. 2013. PMID: 23407676

2

Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).

Silveira I, Manaia A, Melki J, Magariño C, Lunkes A, Hernandez A, Gispert S, Burlet P, Rozet JM, Coutinho P, et al. Silveira I, et al. Genomics. 1993 Sep;17(3):556-9. doi: 10.1006/geno.1993.1371. Genomics. 1993. PMID: 7902323

3

Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.

Sequeiros J, Silveira I, Maciel P, Coutinho P, Manaia A, Gaspar C, Burlet P, Loureiro L, Guimarães J, Tanaka H, et al. Sequeiros J, et al. Among authors: silveira i. Genomics. 1994 Jun;21(3):645-8. doi: 10.1006/geno.1994.1327. Genomics. 1994. PMID: 7959745

4

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

5

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

Lopes-Cendes I, Maciel P, Kish S, Gaspar C, Robitaille Y, Clark HB, Koeppen AH, Nance M, Schut L, Silveira I, Coutinho P, Sequeiros J, Rouleau GA. Lopes-Cendes I, et al. Among authors: silveira i. Ann Neurol. 1996 Aug;40(2):199-206. doi: 10.1002/ana.410400211. Ann Neurol. 1996. PMID: 8773601

6

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

7

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA. Silveira I, et al. Am J Med Genet. 1998 Mar 28;81(2):134-8. doi: 10.1002/(sici)1096-8628(19980328)81:2<134::aid-ajmg3>3.0.co;2-w. Am J Med Genet. 1998. PMID: 9613852

8

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J. Silveira I, et al. Am J Hum Genet. 2000 Mar;66(3):830-40. doi: 10.1086/302827. Am J Hum Genet. 2000. PMID: 10712199 Free PMC article.

9

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n.

Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Jardim LB, et al. Among authors: silveira i. Arch Neurol. 2001 Jun;58(6):899-904. doi: 10.1001/archneur.58.6.899. Arch Neurol. 2001. PMID: 11405804

10

Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds.

Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Jardim LB, et al. Among authors: silveira i. Acta Neurol Scand. 2001 Oct;104(4):224-31. doi: 10.1034/j.1600-0404.2001.00020.x. Acta Neurol Scand. 2001. PMID: 11589651

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