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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.
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 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
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation.
Camdessanché JP, Belzil VV, Jousserand G, Rouleau GA, Créac'h C, Convers P, Antoine JC. Camdessanché JP, et al. Among authors: belzil vv. Orphanet J Rare Dis. 2011 Feb 5;6:4. doi: 10.1186/1750-1172-6-4. Orphanet J Rare Dis. 2011. PMID: 21294910 Free PMC article.
45 results