An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
一项关于ATXN2基因CAG重复扩增相关肌萎缩侧索硬化症的多效性和外显率的观察性研究
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01811-2
Demaegd, Koen C; Kernan, Aoife; Cooper-Knock, Johnathan; van Vugt, Joke J F A; Harvey, Calum; Moll, Tobias; O'Brien, David; Gornall, Sarah; Drury, Luke; Farhan, Sali M K; Dion, Patrick A; Rouleau, Guy A; Western, Andrea; Parsons, Paul J; Mclean, Benjamin; Benatar, Michael; van den Berg, Leonard H; Van Damme, Philip; Willem Dankbaar, Jan; Hendrikse, Jeroen; Koole, Wouter; de Bie, Charlotte; Hobson, Esther; Veldink, Jan H; van de Warrenburg, Bart; Pasterkamp, R Jeroen; van Rheenen, Wouter; Kirby, Janine; Shaw, Pamela J; van Es, Michael A