Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
5R01NS031687-02
Application #
2269639
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1994-05-25
Project End
1997-04-30
Budget Start
1995-05-01
Budget End
1996-04-30
Support Year
2
Fiscal Year
1995
Total Cost
Indirect Cost
Name
Montreal General Hospital
Department
Type
DUNS #
City
Montreal
State
PQ
Country
Canada
Zip Code
Gaspar, C; Lopes-Cendes, I; Hayes, S et al. (2001) Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am J Hum Genet 68:523-8
Maciel, P; Gaspar, C; Guimaraes, L et al. (1999) Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. Eur J Hum Genet 7:147-56
Silveira, I; Coutinho, P; Maciel, P et al. (1998) Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. Am J Med Genet 81:134-8
Lopes-Cendes, I; Teive, H G; Calcagnotto, M E et al. (1997) Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients. Arq Neuropsiquiatr 55:519-29
Maciel, P; Lopes-Cendes, I; Kish, S et al. (1997) Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. Am J Hum Genet 60:993-6
Lopes-Cendes, I; Silveira, I; Maciel, P et al. (1996) Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease. Arch Neurol 53:1168-74
DeStefano, A L; Cupples, L A; Maciel, P et al. (1996) A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 59:119-27
Lopes-Cendes, I; Steiner, C E; Silveira, I et al. (1996) Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1. Arq Neuropsiquiatr 54:412-8
Lopes-Cendes, I; Maciel, P; Kish, S et al. (1996) Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 40:199-206
Gaspar, C; Lopes-Cendes, I; DeStefano, A L et al. (1996) Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum Genet 98:620-4

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