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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. by Akimoto, C, Volk, A, van Blitterswijk, M, Van den Broeck, M, Leblond, C, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, D, Just, W
Published 2014Journal article -
2
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories by Akimoto, C, Volk, A, van Blitterswijk, M, Van den Broeck, M, Van den Broeck, M, Leblond, C, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, Ratti, A, van der Zee, J, van der Zee, J, Alstermark, H, Birve, A, Calini, D
Published 2014Journal article -
3
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis by Kenna, P, van Doormaal PTC, P, Dekker, A, Ticozzi, N, Kenna, B, Diekstra, F, van Rheenen, W, van Eijk, K, Jones, A, Keagle, P, Shatunov, A, Sproviero, W, Smith, B, van Es, M, Topp, S, Kenna, A, Miller, J, Fallini, C, Tiloca, C, McLaughlin, R, Vance, C, Troakes, C, Colombrita, C, Mora, G, Calvo, A, Verde, F, Al-Sarraj, S, King, A, Calini, D, de Belleroche, J, Baas, F, van der Kooi, A, de Visser, M, ten Asbroek, A, Sapp, P, McKenna-Yasek, D, Polak, M, Asress, S, Munoz-Blanco, J, SLAGEN Consortium, Lauria, G, Williams, K, Leigh, P, Nicholson, G, Blair, I, Leblond, C, Dion, P, Rouleau, G, Pall, H, Shaw, P, Turner, M, Talbot, K, Taroni, F, Boylan, K, Van Blitterswijk, M, Rademakers, R, Esteban-Perez, J, Garcia-Redondo, A, Van Damme, P, Robberecht, W, Chio, A, Gellera, C, Drepper, C, Sendtner, M, Ratti, A, Glass, J, Mora, J, Basak, A, Hardiman, O, Ludolph, A, Andersen, P, Wesihaupt, J, Brown, R, Al-Chalabi, A, Silani, V, Shaw, C, van den Berg, L, Veldink, J, Landers, J
Published 2016Journal article -
4
Genome-wide analyses identify KIF5A as a novel ALS gene by 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
Published 2018Journal article