Bouchard JP - Search Results

1

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: bouchard jp. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Nat Genet. 2000. PMID: 10655055

2

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. Neuromuscul Disord. 1998 Oct;8(7):474-9. doi: 10.1016/s0960-8966(98)00055-8. Neuromuscul Disord. 1998. PMID: 9829277

3

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: bouchard jp. Am J Hum Genet. 1999 Mar;64(3):768-75. doi: 10.1086/302274. Am J Hum Genet. 1999. PMID: 10053011 Free PMC article.

4

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A. Mercier J, et al. Among authors: bouchard jp. Genet Test. 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. Genet Test. 2001. PMID: 11788093

5

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.

De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard JP, Morgan K. De Braekeleer M, et al. Among authors: bouchard jp. Genet Epidemiol. 1993;10(1):17-25. doi: 10.1002/gepi.1370100103. Genet Epidemiol. 1993. PMID: 8472930

6

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.

Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB. Richter A, et al. Among authors: bouchard jp. Am J Med Genet. 1996 Sep 6;64(4):594-601. doi: 10.1002/(SICI)1096-8628(19960906)64:4<594::AID-AJMG13>3.0.CO;2-C. Am J Med Genet. 1996. PMID: 8870928

7

Diversity of ARSACS mutations in French-Canadians.

Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Among authors: bouchard jp. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129

8

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Richter A, Morgan K, Bouchard JP, Poirier J, Mercier J, Gosselin F, Melançon SB. Richter A, et al. Among authors: bouchard jp. Adv Neurol. 1993;61:97-103. Adv Neurol. 1993. PMID: 8421971 Review. No abstract available.

9

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prévost C, Bouchard JP, Mathieu J, Rouleau GA. Casaubon LK, et al. Among authors: bouchard jp. Am J Hum Genet. 1996 Jan;58(1):28-34. Am J Hum Genet. 1996. PMID: 8554065 Free PMC article.

10

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: bouchard jp. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531

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