Brais B - Search Results

1

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.

Dermer E, Spahr A, Tran LT, Mirchi A, Pelletier F, Guerrero K, Ahmed S, Brais B, Braverman N, Buhas D, Chandratre S, Chenier S, Chrestian N, Desmeules M, Dilenge ME, Laflamme J, Larbrisseau A, Legault G, Lim KY, Maftei C, Major P, Malvey-Dorn E, Marois P, Mitchell J, Nadeau A, Osterman B, Paradis I, Pohl D, Reggin J, Riou E, Roedde G, Rossignol E, Sébire G, Shevell M, Srour M, Sylvain M, Tarnopolsky M, Venkateswaran S, Sullivan M, Bernard G. Dermer E, et al. Among authors: brais b. J Child Neurol. 2020 Nov;35(13):901-907. doi: 10.1177/0883073820938645. Epub 2020 Jul 28. J Child Neurol. 2020. PMID: 32720856

2

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.

Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B. Roddier K, et al. Among authors: brais b. Neurology. 2005 May 24;64(10):1762-7. doi: 10.1212/01.WNL.0000161849.29944.43. Neurology. 2005. PMID: 15911806

3

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

4

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

5

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J. Dupré N, et al. Among authors: brais b. Neuromuscul Disord. 2009 May;19(5):330-4. doi: 10.1016/j.nmd.2008.01.007. Epub 2008 Mar 11. Neuromuscul Disord. 2009. PMID: 18337100

6

[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].

Dupré N, Chrestian N, Thiffault I, Brais B, Rouleau GA, Bouchard JP. Dupré N, et al. Among authors: brais b. Rev Neurol (Paris). 2008 Jan;164(1):12-21. doi: 10.1016/j.neurol.2007.08.006. Epub 2008 Jan 25. Rev Neurol (Paris). 2008. PMID: 18342054 Review. French.

7

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.

8

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.

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

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Daoud H, et al. Among authors: brais b. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25. J Med Genet. 2013. PMID: 23355746

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