Brais B - Search Results

1

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. La Piana R, et al. Among authors: brais b. J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7. J Child Neurol. 2014. PMID: 24105487

2

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.

3

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.

4

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.

5

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.

6

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

7

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

8

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

9

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.

La Piana R, Webber A, Guiot MC, Del Pilar Cortes M, Brais B. La Piana R, et al. Among authors: brais b. Neurogenetics. 2014 Oct;15(4):289-94. doi: 10.1007/s10048-014-0413-1. Epub 2014 Jul 12. Neurogenetics. 2014. PMID: 25012610

10

Vanishing white matter disease in French-Canadian patients from Quebec.

Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Robinson MÈ, et al. Among authors: brais b. Pediatr Neurol. 2014 Aug;51(2):225-32. doi: 10.1016/j.pediatrneurol.2014.05.006. Epub 2014 May 14. Pediatr Neurol. 2014. PMID: 25079571

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