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

2

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

3

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: bouchard jp. Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3. Brain. 2006. PMID: 16672289

4

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.

5

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

6

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

7

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication.

Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Dupré N, et al. Among authors: bouchard jp. Can J Neurol Sci. 1999 Aug;26(3):196-200. doi: 10.1017/s031716710000024x. Can J Neurol Sci. 1999. PMID: 10451742

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: 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.

9

Phenotypic manifestations in French-Canadian populations with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication.

Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Dupré N, et al. Among authors: bouchard jp. Ann N Y Acad Sci. 1999 Sep 14;883:497-9. Ann N Y Acad Sci. 1999. PMID: 10586283 No abstract available.

10

Nerve conduction studies and electromyography in Friedreich's ataxia.

Peyronnard JM, Lapointe L, Bouchard JP, Lamontagne A, Lemieux B, Barbeau A. Peyronnard JM, et al. Among authors: bouchard jp. Can J Neurol Sci. 1976 Nov;3(4):313-7. doi: 10.1017/s0317167100025518. Can J Neurol Sci. 1976. PMID: 1000415

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