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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA. Kaneb HM, et al. Among authors: belzil vv. Hum Mol Genet. 2015 Mar 1;24(5):1363-73. doi: 10.1093/hmg/ddu545. Epub 2014 Oct 24. Hum Mol Genet. 2015. PMID: 25343993 Free PMC article.
Mutations in FUS cause FALS and SALS in French and French Canadian populations.
Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team; Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA. Belzil VV, et al. Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9. Neurology. 2009. PMID: 19741216 Free PMC article.
A mutation that creates a pseudoexon in SOD1 causes familial ALS.
Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA. Valdmanis PN, et al. Among authors: belzil vv. Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. doi: 10.1111/j.1469-1809.2009.00546.x. Ann Hum Genet. 2009. PMID: 19847927 No abstract available.
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. Valdmanis PN, et al. Among authors: belzil vv. Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28. Brain. 2011. PMID: 21115467
43 results