Bouchard JP - Search Results

1

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.

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

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

4

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

5

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

6

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.

7

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

8

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.

9

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.

Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP, et al. Brais B, et al. Among authors: bouchard jp. Hum Mol Genet. 1995 Mar;4(3):429-34. doi: 10.1093/hmg/4.3.429. Hum Mol Genet. 1995. PMID: 7795598

10

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

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