Mathieu J - Search Results

1

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.

Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M. Montermini L, et al. Among authors: mathieu j. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531

2

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Dupré N, et al. Among authors: mathieu j. Ann Neurol. 2003 Jul;54(1):9-18. doi: 10.1002/ana.77777. Ann Neurol. 2003. PMID: 12838516 Review.

3

Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1.

Puymirat J, Giguère Y, Mathieu J, Bouchard JP. Puymirat J, et al. Among authors: mathieu j. Neurology. 2009 Dec 15;73(24):2126-7. doi: 10.1212/WNL.0b013e3181c677e1. Neurology. 2009. PMID: 20018643 No abstract available.

4

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. Thiffault I, et al. Among authors: mathieu j. Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3. Brain. 2006. PMID: 16672289

5

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B. Duquette A, et al. Among authors: mathieu j. Ann Neurol. 2005 Mar;57(3):408-14. doi: 10.1002/ana.20408. Ann Neurol. 2005. PMID: 15732101

6

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB. Bouchard JP, et al. Among authors: mathieu j. Neuromuscul Disord. 1998 Oct;8(7):474-9. doi: 10.1016/s0960-8966(98)00055-8. Neuromuscul Disord. 1998. PMID: 9829277

7

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. Engert JC, et al. Among authors: mathieu j. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Nat Genet. 2000. PMID: 10655055

8

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

Richter A, Rioux JD, Bouchard JP, Mercier J, Mathieu J, Ge B, Poirier J, Julien D, Gyapay G, Weissenbach J, Hudson TJ, Melançon SB, Morgan K. Richter A, et al. Among authors: mathieu j. Am J Hum Genet. 1999 Mar;64(3):768-75. doi: 10.1086/302274. Am J Hum Genet. 1999. PMID: 10053011 Free PMC article.

9

Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias.

Vanasse M, Gabet JY, De Léan J, Mauguière F, Sabouraud P, Bouchard JP, Mathieu J. Vanasse M, et al. Among authors: mathieu j. Electroencephalogr Clin Neurophysiol Suppl. 1990;41:223-35. doi: 10.1016/b978-0-444-81352-7.50027-3. Electroencephalogr Clin Neurophysiol Suppl. 1990. PMID: 2289433 Review.

10

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population.

Simard LR, Prescott G, Rochette C, Morgan K, Lemieux B, Mathieu J, Melançon SB, Vanasse M. Simard LR, et al. Among authors: mathieu j. Hum Mol Genet. 1994 Mar;3(3):459-63. doi: 10.1093/hmg/3.3.459. Hum Mol Genet. 1994. PMID: 8012358

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