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 by Smith, B, Topp, S, Fallini, C, Shibata, H, Chen, H, Troakes, C, King, A, Ticozzi, N, Kenna, K, Sato, A, Soragia-Gkazi, A, Miller, J, Vance, C, Wong, C, de Majo, M, Kuttuah, W, Mitchell, J, Scotter, E, Parkin, N, Sapp, P, Nolan, M, Nestor, P, Simpson, M, Baas, F, de Jong, V, ten Asbroek, A, Redondo, A, Esteban-Perez, J, Tiloca, C, Verde, F, Dugo, S, Leigh, P, Pall, H, Morrison, K, Al-Chalabi, A, Shaw, P, Kirby, J, Turner, M, Talbot, K, Hardiman, O, Glass, J, de Belleroche, J, Maki, M, Moss, S, Miller, C, Gellera, C, Ratti, A, Al-Sarraj, S, Brown, R, Silani, V, Landers, J, Shaw, C

Published 2017

Journal article

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

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