The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
C9ORF72 扩增突变是欧洲肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTD)的常见病因,且起源于单一祖先。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2012.98
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; Hortobágyi, Tibor; Al-Sarraj, Safa; Rogelj, Boris; Powell, John; Lupton, Michelle; Lovestone, Simon; Sapp, Peter C; Weber, Markus; Nestor, Peter J; Schelhaas, Helenius J; Asbroek, Anneloor Alm Ten; 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; Vianney de Jong, J M B; Baas, Frank; Andersen, Peter M; Landers, John; Brown, Robert H Jr; Weale, Michael E; Al-Chalabi, Ammar; Shaw, Christopher E