日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The role of de novo mutations in the development of amyotrophic lateral sclerosis

新发突变在肌萎缩侧索硬化症发展中的作用

van Doormaal, Perry T C; Ticozzi, Nicola; Weishaupt, Jochen H; Kenna, Kevin; Diekstra, Frank P; Verde, Federico; Andersen, Peter M; Dekker, Annelot M; Tiloca, Cinzia; Marroquin, Nicolai; Overste, Daniel J; Pensato, Viviana; Nürnberg, Peter; Pulit, Sara L; Schellevis, Raymond D; Calini, Daniela; Altmüller, Janine; Francioli, Laurent C; Muller, Bernard; Castellotti, Barbara; Motameny, Susanne; Ratti, Antonia; Wolf, Joachim; Gellera, Cinzia; Ludolph, Albert C; van den Berg, Leonard H; Kubisch, Christian; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Volk, Alexander E

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

全基因组关联荟萃分析发现17q11.2处存在一个与散发性肌萎缩侧索硬化症相关的新位点

Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valentina; Corrado, Lucia; Sorarù, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, Davide; Calini, Daniela; Castellotti, Barbara; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stella; Del Bo, Roberto; Conforti, Francesca L; Siciliano, Gabriele; Inghilleri, Maurizio; Saccà, Francesco; Bongioanni, Paolo; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimiliano; Ferlini, Alessandra; Di Blasio, Anna M; Signorini, Stefano; Shatunov, Aleksey; Jones, Ashley; Shaw, Pamela J; Morrison, Karen E; Farmer, Anne E; Van Damme, Philip; Robberecht, Wim; Chiò, Adriano; Traynor, Bryan J; Sendtner, Michael; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Andersen, Peter M; Leigh, Nigel P; Glass, Jonathan D; Overste, Daniel; Diekstra, Frank P; Veldink, Jan H; van Es, Michael A; Shaw, Christopher E; Weale, Michael E; Lewis, Cathryn M; Williams, Julie; Brown, Robert H; Landers, John E; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P; D'Alfonso, Sandra; van den Berg, Leonard H; Taroni, Franco; Al-Chalabi, Ammar; Powell, John; Silani, Vincenzo