Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the ANXA11 gene in 13 individuals. The p.D40G mutation was absent from 70,000 control whole-exome sequences. This mut...

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Main Authors:	Smith, BN, Topp, SD, Fallini, C, Shibata, H, Chen, HJ, Troakes, C, King, A, Ticozzi, N, Kenna, KP, Soragia-Gkazi, A, Miller, JW, Sato, A, Dias, DM, Jeon, M, Vance, C, Wong, CH, de Majo, M, Kattuah, W, Mitchell, JC, Scotter, EL, Parkin, NW, Sapp, PC, Nolan, M, Nestor, PJ, Simpson, M, Weale, M, Lek, M, Baas, F, de Jong, JM, Asbroek, ALMA, Redondo, AG, Esteban-Pérez, J, Tiloca, C, Verde, F, Duga, S, Leigh, N, Pall, H, Morrison, KE, Al-Chalabi, A, Shaw, PJ, Kirby, J, Turner, MR, Talbot, K, Hardiman, O, Glass, JD, De Belleroche, J, Maki, M, Moss, SE, Miller, C, Gellera, C, Ratti, A, Al-Sarraj, S, Brown, RH, Silani, V, Landers, JE, Shaw, CE
Format:	Journal article
Language:	English
Published:	American Association for the Advancement of Science 2017

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

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