Brais B - Search Results

1

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. La Piana R, et al. Among authors: brais b. Arch Neurol. 2012 Jun;69(6):765-68. doi: 10.1001/archneurol.2011.1942. Arch Neurol. 2012. PMID: 22312164 Free PMC article.

2

Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis.

Mezei MM, Mankodi A, Brais B, Marineau C, Thornton CA, Rouleau GA, Karpati G. Mezei MM, et al. Among authors: brais b. Neurology. 1999 Feb;52(3):669-70. doi: 10.1212/wnl.52.3.669. Neurology. 1999. PMID: 10025815 No abstract available.

3

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P. Stumpf E, et al. Among authors: brais b. Arch Neurol. 2003 Sep;60(9):1307-12. doi: 10.1001/archneur.60.9.1307. Arch Neurol. 2003. PMID: 12975300

4

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Dupré N, et al. Among authors: brais b. Ann Neurol. 2007 Jul;62(1):93-8. doi: 10.1002/ana.21143. Ann Neurol. 2007. PMID: 17503513

5

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Bernard G, et al. Among authors: brais b. Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17. Neurogenetics. 2010. PMID: 20640464 Free PMC article.

6

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Among authors: brais b. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.

7

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Tétreault M, et al. Among authors: brais b. Am J Hum Genet. 2011 Nov 11;89(5):652-5. doi: 10.1016/j.ajhg.2011.10.006. Epub 2011 Oct 27. Am J Hum Genet. 2011. PMID: 22036172 Free PMC article.

8

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

Belzil VV, Langlais JS, Daoud H, Dion PA, Brais B, Rouleau GA. Belzil VV, et al. Among authors: brais b. Arch Neurol. 2012 May;69(5):653-6. doi: 10.1001/archneurol.2011.2499. Arch Neurol. 2012. PMID: 22248478

9

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. Potic A, et al. Among authors: brais b. Arch Neurol. 2012 Jul;69(7):920-3. doi: 10.1001/archneurol.2011.1963. Arch Neurol. 2012. PMID: 22451160

10

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: brais b. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129

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