Brais B - Search Results

1

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.

Choquet K, Pinard M, Yang S, Moir RD, Poitras C, Dicaire MJ, Sgarioto N, Larivière R, Kleinman CL, Willis IM, Gauthier MS, Coulombe B, Brais B. Choquet K, et al. Among authors: brais b. Mol Brain. 2019 Jun 20;12(1):59. doi: 10.1186/s13041-019-0479-7. Mol Brain. 2019. PMID: 31221184 Free PMC article.

2

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, Saint-Denis A, Pagé M, Rouleau GA, Brais B. Lavoie H, et al. Among authors: brais b. Hum Mol Genet. 2003 Nov 15;12(22):2967-79. doi: 10.1093/hmg/ddg329. Epub 2003 Sep 30. Hum Mol Genet. 2003. PMID: 14519685

3

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.

Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B. Corbeil-Girard LP, et al. Among authors: brais b. Neurobiol Dis. 2005 Apr;18(3):551-67. doi: 10.1016/j.nbd.2004.10.019. Neurobiol Dis. 2005. PMID: 15755682

4

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

5

The dynamism of PABPN1 nuclear inclusions during the cell cycle.

Marie-Josée Sasseville A, Caron AW, Bourget L, Klein AF, Dicaire MJ, Rouleau GA, Massie B, Langelier Y, Brais B. Marie-Josée Sasseville A, et al. Among authors: brais b. Neurobiol Dis. 2006 Sep;23(3):621-9. doi: 10.1016/j.nbd.2006.05.015. Epub 2006 Jul 24. Neurobiol Dis. 2006. PMID: 16860991

6

PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.

Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B. Klein AF, et al. Among authors: brais b. Exp Cell Res. 2008 May 1;314(8):1652-66. doi: 10.1016/j.yexcr.2008.02.005. Epub 2008 Feb 23. Exp Cell Res. 2008. PMID: 18367172

7

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.

Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Loggia ML, et al. Among authors: brais b. J Neurosci. 2009 Feb 18;29(7):2162-6. doi: 10.1523/JNEUROSCI.4633-08.2009. J Neurosci. 2009. PMID: 19228968 Free PMC article.

8

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.

9

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.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

209 results

Search Page