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Autosomal dominant primary lateral sclerosis.
Dupré N, Valdmanis PN, Bouchard JP, Rouleau GA. Dupré N, et al. Among authors: valdmanis pn. Neurology. 2007 Apr 3;68(14):1156-7. doi: 10.1212/01.wnl.0000258678.58808.86. Neurology. 2007. PMID: 17404201 No abstract available.
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. Kabashi E, et al. Among authors: valdmanis pn. Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30. Nat Genet. 2008. PMID: 18372902
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.
Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, Hosler BA, Glass JD, Polack M, Rouleau GA, Cha JH, Hardiman O, Brown RH Jr. Broom WJ, et al. Among authors: valdmanis pn. Amyotroph Lateral Scler. 2008 Aug;9(4):229-37. doi: 10.1080/17482960802103107. Amyotroph Lateral Scler. 2008. PMID: 18608091
54 results