Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene. by Kent, L, Vizard, T, Smith, B, Topp, S, Vance, C, Gkazi, A, Miller, J, Shaw, C, Talbot, K

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. by Smith, B, Ticozzi, N, Fallini, C, Gkazi, A, Topp, S, Kenna, K, Scotter, E, Kost, J, Keagle, P, Miller, J, Calini, D, Vance, C, Danielson, E, Troakes, C, Tiloca, C, Al-Sarraj, S, Lewis, E, King, A, Colombrita, C, Pensato, V, Castellotti, B, de Belleroche, J, Baas, F, ten Asbroek, A, Sapp, P

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency by Rota, I, Handel, A, Maio, S, Klein, F, Dhalla, F, Deadman, M, Cheuk, S, Newman, J, Michaels, Y, Zuklys, S, Prevot, N, Hublitz, P, Charles, P, Gkazi, A, Adamopoulou, E, Quasim, W, Davies, EG, Hanson, C, Pagnamenta, A, Camps, C, Dreau, H, White, A, James, K, Fischer, R, Gileadi, O, Taylor, J, Fulga, T, Lagerholm, BC, Anderson, G, Sezgin, E, Hollander, G

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

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