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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function ALS相关的错义突变和无义TBK1突变均可导致激酶功能丧失 de Majo, Martina; Topp, Simon D.; Smith, Bradley N.; Nishimura, Agnes L.; Chen, Han-Jou; Gkazi, Athina Soragia; Miller, Jack; Wong, Chun Hao; Vance, Caroline; Baas, Frank; ten Asbroek, Anneloor L. M. A.; Kenna, Kevin P.; Ticozzi, Nicola; Garcia Redondo, Alberto; Esteban-Perez, Jesus; Tiloca, Cinzia; Verde, Federico; Duga, Stefano; Morrison, Karen E.; Shaw, Pamela J.; Kirby, Janine; Turner, Martin R.; Talbot, Kevin; Hardiman, Orla; Glass, Jonathan D.; de Belleroche, Jacqueline; Gellera, Cinzia; Ratti, Antonia; Al-Chalabi, Ammar; Brown, Robert H.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E. 分享 收藏
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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis Smith, Bradley N.; Topp, Simon D.; Fallini, Claudia; Shibata, Hideki; Chen, Han-Jou; Troakes, Claire; King, Andrew; Ticozzi, Nicola; Kenna, Kevin P.; Soragia-Gkazi, Athina; Miller, Jack W.; Sato, Akane; Dias, Diana Marques; Jeon, Maryangel; Vance, Caroline; Wong, Chun Hao; de Majo, Martina; Kattuah, Wejdan; Mitchell, Jacqueline C.; Scotter, Emma L.; Parkin, Nicholas W.; Sapp, Peter C.; Nolan, Matthew; Nestor, Peter J.; Simpson, Michael; Weale, Michael; Lek, Monkel; Baas, Frank; de Jong, J. M. Vianney; ten Asbroek, Anneloor L. M. A.; Garcia Redondo, Alberto; Esteban-Perez, Jesus; Tiloca, Cinzia; Verde, Federico; Duga, Stefano; Leigh, Nigel; Pall, Hardev; Morrison, Karen E.; Al-Chalabi, Ammar; Shaw, Pamela J.; Kirby, Janine; Turner, Martin R.; Talbot, Kevin; Hardiman, Orla; Glass, Jonathan D.; de Belleroche, Jacqueline; Maki, Masatoshi; Moss, Stephen E.; Miller, Christopher; Gellera, Cinzia; Ratti, Antonia; Al-Sarraj, Safa; Brown, Robert H., Jr.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E. 分享 收藏
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis NEK1变体赋予肌萎缩性侧索硬化症易感性 Kenna, Kevin P.; van Doormaal, Perry T. C.; Dekker, Annelot M.; Ticozzi, Nicola; Kenna, Brendan J.; Diekstra, Frank P.; van Rheenen, Wouter; van Eijk, Kristel R.; Jones, Ashley R.; Keaglel, Pamela; Shatunov, Aleksey; Sproviero, William; Smiths, Bradley N.; van Es, Michael A.; Topps, Simon D.; Kenna, Aoife; Miller, Jack W.; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russell L.; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, Jacqueline; Baas, Frank; van der Kooi, Anneke J.; de Visser, Marianne; ten Asbroek, Anneloor L. M. A.; Sapp, Peter C.; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Luis Munoz-Blanco, Jose; Strom, Tim M.; Meitinger, Thomas; Morrison, Karen E.; Lauria, Giuseppe; Williams, Kelly L.; Leigh, P. Nigel; Nicholson, Garth A.; Blair, Ian P.; Leblond, Claire S.; Dion, Patrick A.; Rouleau, Guy A.; Pall, Hardev; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B.; Van Blitterswijk, Marka; Rademakers, Rosa; Esteban-Perez, Jesus; Garcia-Redondo, Alberto; Van Damme, Phillip; Robberecht, Wim; Chio, Adrian; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michael; Ratti, Antonia; Glass, Jonathan D.; Mora, Jesus S.; Basak, Nazli A.; Hardiman, Orla; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Brown, Robert H., Jr.; Al-Chalabi, Ammar; Silani, Vincenzo; Shaw, Christopher E.; van den Berg, Leonard H.; Veldink, Jan H.; Landers, John E.; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; Pensato, Viviana; Castellotti, Barbara; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Soraru, Gianni 分享 收藏
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia Williams, Kelly L.; Topp, Simon; Yang, Shu; Smith, Bradley; Fifita, Jennifer A.; Warraich, Sadaf T.; Zhang, Katharine Y.; Farrawell, Natalie; Vance, Caroline; Hu, Xun; Chesi, Alessandra; Leblond, Claire S.; Lee, Albert; Rayner, Stephanie L.; Sundaramoorthy, Vinod; Dobson-Stone, Carol; Molloy, Mark P.; van Blitterswijk, Marka; Dickson, Dennis W.; Petersen, Ronald C.; Graff-Radford, Neill R.; Boeve, Bradley F.; Murray, Melissa E.; Pottier, Cyril; Don, Emily; Winnick, Claire; McCann, Emily P.; Hogan, Alison; Daoud, Hussein; Levert, Annie; Dion, Patrick A.; Mitsui, Jun; Ishiura, Hiroyuki; Takahashi, Yuji; Goto, Jun; Kost, Jason; Gellera, Cinzia; Gkazi, Athina Soragia; Miller, Jack; Stockton, Joanne; Brooks, William S.; Boundy, Karyn; Polak, Meraida; Munoz-Blanco, Jose Luis; Esteban-Perez, Jesus; Rabano, Alberto; Hardiman, Orla; Morrison, Karen E.; Ticozzi, Nicola; Silani, Vincenzo; de Belleroche, Jacqueline; Glass, Jonathan D.; Kwok, John B. J.; Guillemin, Gilles J.; Chung, Roger S.; Tsuji, Shoji; Brown, Robert H., Jr.; Garcia-Redondo, Alberto; Rademakers, Rosa; Landers, John E.; Gitler, Aaron D.; Rouleau, Guy A.; Cole, Nicholas J.; Yerbury, Justin J.; Atkin, Julie D.; Shaw, Christopher E.; Nicholson, Garth A.; Blair, Ian P. 分享 收藏
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients 在英国家族性和散发性患者队列中,CHCHD10 P34S变体与ALS无关 HaoWong, Chun; Topp, Simon; Gkazi, Athina Soragia; Troakes, Claire; Miller, Jack W.; de Majo, Martina; Kirby, Janine; Shaw, Pamela J.; Morrison, Karen E.; de Belleroche, Jacqueline; Vance, Caroline A.; Al-Chalabi, Ammar; Al-Sarraj, Safa; Shaw, Christopher E.; Smith, Bradley N. 分享 收藏
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder Smith, Bradley N.; Newhouse, Stephen; Shatunov, Aleksey; Vance, Caroline; Topp, Simon; Johnson, Lauren; Miller, Jack; Lee, Younbok; Troakes, Claire; Scott, Kirsten M.; Jones, Ashley; Gray, Ian; Wright, Jamie; Hortobagyi, Tibor; Al-Sarraj, Safa; Rogelj, Boris; Powell, John; Lupton, Michelle; Lovestone, Simon; Sapp, Peter C.; Weber, Markus; Nestor, Peter J.; Schelhaas, Helenius J.; ten Asbroek, Anneloor A. L. M.; Silani, Vincenzo; Gellera, Cinzia; Taroni, Franco; Ticozzi, Nicola; Van den Berg, Leonard; Veldink, Jan; Van Damme, Phillip; Robberecht, Wim; Shaw, Pamela J.; Kirby, Janine; Pall, Hardev; Morrison, Karen E.; Morris, Alex; de Belleroche, Jacqueline; de Jong, J. M. B. Vianney; Baas, Frank; Andersen, Peter M.; Landers, John; Brown, Robert H., Jr.; Weale, Michael E.; Al-Chalabi, Ammar; Shaw, Christopher E. 分享 收藏
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Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase Mitchell, John; Paul, Praveen; Chen, Han-Jou; Morris, Alex; Payling, Miles; Falchi, Mario; Habgood, James; Panoutsou, Stefania; Winkler, Sabine; Tisato, Veronica; Hajitou, Amin; Smith, Bradley; Vance, Caroline; Shaw, Christopher; Mazarakis, Nicholas D.; de Belleroche, Jacqueline 分享 收藏
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