Brais B - Search Results

1

Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.

Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Gagnon C, et al. Among authors: brais b. Neurology. 2019 Oct 15;93(16):e1543-e1549. doi: 10.1212/WNL.0000000000008313. Epub 2019 Sep 18. Neurology. 2019. PMID: 31534027 Free PMC article.

2

A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy.

Mathieu J, Lapointe G, Brassard A, Tremblay C, Brais B, Rouleau GA, Bouchard JP. Mathieu J, et al. Among authors: brais b. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S100-4. doi: 10.1016/s0960-8966(97)00092-8. Neuromuscul Disord. 1997. PMID: 9392026 Clinical Trial.

3

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA. Brais B, et al. Nat Genet. 1998 Feb;18(2):164-7. doi: 10.1038/ng0298-164. Nat Genet. 1998. PMID: 9462747

4

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: brais b. Ann Neurol. 2005 Mar;57(3):408-14. doi: 10.1002/ana.20408. Ann Neurol. 2005. PMID: 15732101

5

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

6

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

Tétreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. Tétreault M, et al. Among authors: brais b. Brain. 2006 Aug;129(Pt 8):2077-84. doi: 10.1093/brain/awl146. Epub 2006 Jun 7. Brain. 2006. PMID: 16760198

7

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. Rossignol E, et al. Among authors: brais b. Neurology. 2007 Nov 13;69(20):1937-41. doi: 10.1212/01.wnl.0000290831.08585.2c. Neurology. 2007. PMID: 17998485

8

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. Srour M, et al. Among authors: brais b. Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17. Neuromuscul Disord. 2010. PMID: 20610155

9

Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K. Kozlov G, et al. Among authors: brais b. J Biol Chem. 2011 Jun 10;286(23):20407-12. doi: 10.1074/jbc.M111.232884. Epub 2011 Apr 20. J Biol Chem. 2011. PMID: 21507954 Free PMC article.

10

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS. Girard M, et al. Among authors: brais b. Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17. Proc Natl Acad Sci U S A. 2012. PMID: 22307627 Free PMC article.

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