Article
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Science (New York, N.Y.) - 27 Mar 2015
Cirulli Elizabeth T, Lasseigne Brittany N, Petrovski Slavé, Sapp Peter C, Dion Patrick A, Leblond Claire S, Couthouis Julien, Lu Yi-Fan, Wang Quanli, Krueger Brian J, Ren Zhong, Keebler Jonathan, Han Yujun, Levy Shawn E, Boone Braden E, Wimbish Jack R, Waite Lindsay L, Jones Angela L, Carulli John P, Day-Williams Aaron G, Staropoli John F, Xin Winnie W, Chesi Alessandra, Raphael Alya R, McKenna-Yasek Diane, Cady Janet, Vianney de Jong J M B, Kenna Kevin P, Smith Bradley N, Topp Simon, Miller Jack, Gkazi Athina, Al-Chalabi Ammar, van den Berg Leonard H, Veldink Jan, Silani Vincenzo, Ticozzi Nicola, Shaw Christopher E, Baloh Robert H, Appel Stanley, Simpson Ericka, Lagier-Tourenne Clotilde, Pulst Stefan M, Gibson Summer, Trojanowski John Q, Elman Lauren, McCluskey Leo, Grossman Murray, Shneider Neil A, Chung Wendy K, Ravits John M, Glass Jonathan D, Sims Katherine B, Van Deerlin Vivianna M, Maniatis Tom, Hayes Sebastian D, Ordureau Alban, Swarup Sharan, Landers John, Baas Frank, Allen Andrew S, Bedlack Richard S, Harper J Wade, Gitler Aaron D, Rouleau Guy A, Brown Robert, Harms Matthew B, Cooper Gregory M, Harris Tim, Myers Richard M, Goldstein David B
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes were found to be associated, and TBK1 (the gene encoding...
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