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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function por De Majo, M, Topp, SD, Smith, BN, Nishimura, AL, Chen, H-J, Gkazi, AS, Miller, J, Wong, CH, Vance, C, Baas, F, Asbroek, ALMA, Kenna, KP, Ticozzi, N, Redondo, AG, Esteban-Pérez, J, Tiloca, C, Verde, F, Duga, S, Morrison, KE, Shaw, PJ, Kirby, J, Turner, MR, Talbot, K, Hardiman, O, Glass, JD, De Belleroche, J, Gellera, C, Ratti, A, Al-Chalabi, A, Brown, RH, Silani, V, Landers, JE, Shaw, CE
Publicado 2018Journal article -
2
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis por 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
Publicado 2017Journal article -
3
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis por Lin, K, Pulit, SL, Van Rheenen, W, Shatunov, A, Dekker, AM, McLaughlin, RL, Diekstra, FP, Van Der Spek, RAA, Võsa, U, De Jong, S, Robinson, MR, Yang, J, Fogh, I, Van Doormaal, PT, Tazelaar, GHP, Koppers, M, Blokhuis, AM, Sproviero, W, Jones, AR, Kenna, KP, Van Eijk, KR, Harschnitz, O, Schellevis, RD, Brands, WJ, Medic, J, Menelaou, A, Vajda, A, Ticozzi, N, Rogelj, B, Vrabec, K, Ravnik-Glavač, M, Koritnik, B, Zidar, J, Leonardis, L, Grošelj, LD, Millecamps, S, Salachas, F, Meininger, V, De Carvalho, M, Pinto, S, Mora, JS, Rojas-García, R, Polak, M, Chandran, S, Colville, S, Swingler, R, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Pittman, A, Sidle, K, Fratta, P, Malaspina, A, Topp, S, Petri, S, Abdulla, S, Drepper, C, Sendtner, M, Meyer, T, Ophoff, RA, Staats, KA, Wiedau-Pazos, M, Lomen-Hoerth, C, Van Deerlin, VM, Trojanowski, JQ, Elman, L, McCluskey, L, Basak, AN, Tunca, C, Hamzeiy, H, Parman, Y, Meitinger, T, Lichtner, P, Radivojkov-Blagojevic, M, Andres, CR, Maurel, C, Bensimon, G, Landwehrmeyer, B, Brice, A, Payan, CAM, Saker-Delye, S, Dürr, A, Wood, NW, Tittmann, L, Lieb, W, Franke, A, Rietschel, M, Cichon, S, Nöthen, MM, Amouyel, P, Tzourio, C, Dartigues, J-F, Uitterlinden, AG, Rivadeneira, F, Estrada, K, Hofman, A, Curtis, C, Blauw, HM, Van Der Kooi, AJ, De Visser, M, Goris, A, Weber, M, Shaw, CE, Smith, BN, Pansarasa, O, Cereda, C, Del Bo, R, Comi, GP, D'Alfonso, S, Bertolin, C, Sorarù, G, Mazzini, L, Pensato, V, Gellera, C, Tiloca, C, Ratti, A, Calvo, A, Moglia, C, Brunetti, M, Arcuti, S, Capozzo, R, Zecca, C, Lunetta, C, Penco, S, Riva, N, Padovani, A, Filosto, M, Muller, B, Stuit, RJ, Registry, P, Slalom Group, Registry, S, Fals Sequencing Consortium, Slagen Consortium, Nnipps Study Group, Blair, I, Zhang, K, McCann, EP, Fifita, JA, Nicholson, GA, Rowe, DB, Pamphlett, R, Kiernan, MC, Grosskreutz, J, Witte, OW, Ringer, T, Prell, T, Stubendorff, B, Kurth, I, Hübner, CA, Leigh, PN, Casale, F, Chio, A, Beghi, E, Pupillo, E, Tortelli, R, Logroscino, G, Powell, J, Ludolph, AC, Weishaupt, JH, Robberecht, W, Van Damme, P, Franke, L, Pers, TH, Brown, RH, Glass, JD, Landers, JE, Hardiman, O, Andersen, PM, Corcia, P, Vourc'H, P, Silani, V, Wray, NR, Visscher, PM, De Bakker, PIW, Van Es, MA, Pasterkamp, RJ, Lewis, CM, Breen, G, Al-Chalabi, A, Van Den Berg, LH, Veldink, JH
Publicado 2016Journal article -
4
Genome-wide analyses identify KIF5A as a novel ALS gene por Nicolas, A, Kenna, KP, Renton, AE, Ticozzi, N, Faghri, F, Chia, R, Dominov, JA, Kenna, BJ, Nalls, MA, Keagle, P, Rivera, AM, Van Rheenen, W, Murphy, NA, Van Vugt, JJFA, Geiger, JT, Van Der Spek, RA, Pliner, HA, Shankaracharya, Smith, BN, Marangi, G, Topp, SD, Abramzon, Y, Gkazi, AS, Eicher, JD, Kenna, A, Italsgen Consortium, Mora, G, Calvo, A, Mazzini, L, Riva, N, Mandrioli, J, Caponnetto, C, Battistini, S, Volanti, P, La Bella, V, Conforti, FL, Borghero, G, Messina, S, Simone, IL, Trojsi, F, Salvi, F, Logullo, FO, D'Alfonso, S, Corrado, L, Capasso, M, Ferrucci, L, Genomic Translation For ALS Care (GTAC) Consortium, Moreno, CDAM, Kamalakaran, S, Goldstein, DB, ALS Sequencing Consortium, Gitler, AD, Harris, T, Myers, RM, NYGC ALS Consortium, Phatnani, H, Musunuri, RL, Evani, US, Abhyankar, A, Zody, MC, Answer ALS Foundation, Kaye, J, Finkbeiner, S, Wyman, SK, Lenail, A, Lima, L, Fraenkel, E, Svendsen, CN, Thompson, LM, Van Eyk, JE, Berry, JD, Miller, TM, Kolb, SJ, Cudkowicz, M, Baxi, E, Clinical Research In ALS And Related Disorders For Therapeutic Development (CREATE) Consortium, Benatar, M, Taylor, JP, Rampersaud, E, Wu, G, Wuu, J, Slagen Consortium, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, GP, Sorarù, G, Cereda, C, French ALS Consortium, Corcia, P, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, RW, Sidle, KC, Malaspina, A, Hardy, J, Singleton, AB, Johnson, JO, Arepalli, S, Sapp, PC, McKenna-yasek, D, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, De Belleroche, J, Baas, F, Asbroek, ALMA, Muñoz-Blanco, JL, Hernandez, DG, Ding, J, Gibbs, JR, Scholz, SW, Floeter, MK, Campbell, RH, Landi, F, Bowser, R, Pulst, SM, Ravits, JM, Macgowan, DJL, Kirby, J, Pioro, EP, Pamphlett, R, Broach, J, Gerhard, G, Dunckley, TL, Brady, CB, Kowall, NW, Troncoso, JC, Le Ber, I, Mouzat, K, Lumbroso, S, Heiman-Patterson, TD, Kamel, F, Van Den Bosch, L, Baloh, RH, Strom, TM, Meitinger, T, Shatunov, A, Van Eijk, KR, De Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, McLaughlin, RL, Van Es, MA, Weber, M, Boylan, KB, Van Blitterswijk, M, Rademakers, R, Morrison, KE, Basak, AN, Mora, JS, Drory, VE, Shaw, PJ, Turner, MR, Talbot, K, Hardiman, O, Williams, KL, Fifita, JA, Nicholson, GA, Blair, IP, Rouleau, GA, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Project Mine ALS Sequencing Consortium, Rogaeva, E, Zinman, L, Ostrow, LW, Maragakis, NJ, Rothstein, JD, Simmons, Z, Cooper-Knock, J, Brice, A, Goutman, SA, Feldman, EL, Gibson, SB, Taroni, F, Ratti, A, Gellera, C, Van Damme, P, Robberecht, W, Fratta, P, Sabatelli, M, Lunetta, C, Ludolph, AC, Andersen, PM, Weishaupt, JH, Camu, W, Trojanowski, JQ, Van Deerlin, VM, Brown, RH, Van Den Berg, LH, Veldink, JH, Harms, MB, Glass, JD, Stone, DJ, Tienari, P, Silani, V, Chiò, A, Shaw, CE, Traynor, BJ, Landers, JE
Publicado 2018Journal article