Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
大规模外显子组分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-026-02535-9
Hop, Paul J; Kooyman, Maarten; Kenna, Brendan J; Zwamborn, Ramona A J; van Eijk, Kristel R; Wang, Yan; van Dijk, Charlotte H; Bekema, Erwin; van Rheenen, Wouter; Beele, Paul; van Vugt, Joke J F A; Khleifat, Ahmad Al; Iacoangeli, Alfredo; Cooper-Knock, Johnathan; Smith, Bradley N; Topp, Simon; van der Kooi, Anneke J; Fominykh, Vera; Drory, Vivian; Lerner, Yossef; Shovman, Yehuda; Rowe, Dominic B; Williams, Kelly L; McLaughlin, Russell L; Hurt, Jessica; Huang, Yunfeng; Chen, Chia-Yen; Tsai, Ellen; Runz, Heiko; Aronica, Eleonora; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Farhan, Sali M K; Garton, Fleur C; McRae, Allan F; McCombe, Pamela A; Henderson, Robert D; Fan, Dongsheng; Šlachtová, Lenka; Høyer, Helle; Nishimura, Agnes L; Cauchi, Ruben J; Brylev, Lev; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Salas, Teresa; Mora Pardina, Jesus S; Gotkine, Marc; Povedano, Monica; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Weber, Markus; Kiernan, Matthew C; Pamphlett, Roger; Blair, Ian P; de Carvalho, Mamede; Başak, Nazli A; Ingre, Caroline; Andersen, Peter M; Zinman, Lorne; Rogaeva, Ekaterina; MacKenzie, Ian R; Dupre, Nicolas; Rouleau, Guy A; Traynor, Bryan J; Ticozzi, Nicola; Chiò, Adriano; Silani, Vincenzo; Hardiman, Orla; Phatnani, Hemali; Harms, Matthew B; Dalgard, Clifton L; Glass, Jonathan D; Landers, John E; Van Damme, Philip; Morrison, Karen E; Shaw, Pamela J; Shaw, Chris E; Al-Chalabi, Ammar; van den Berg, Leonard H; Kenna, Kevin P; Veldink, Jan H
