TY  - JOUR
AU  - Chen, Yong-Ping
AU  - Yu, Shi-Hui
AU  - Wei, Qian-Qian
AU  - Cao, Bei
AU  - Gu, Xiao-Jing
AU  - Chen, Xue-Ping
AU  - Song, Wei
AU  - Zhao, Bi
AU  - Wu, Ying
AU  - Sun, Ming-Ming
AU  - Liu, Fei-Fei
AU  - Hou, Yan-Bing
AU  - Ou, Ru-Wei
AU  - Zhang, Ling-Yu
AU  - Liu, Kun-Cheng
AU  - Lin, Jun-Yu
AU  - Xu, Xin-Ran
AU  - Li, Chun-Yu
AU  - Yang, Jing
AU  - Jiang, Zheng
AU  - Liu, Jiao
AU  - Cheng, Yang-Fan
AU  - Xiao, Yi
AU  - Chen, Ke
AU  - Feng, Fei
AU  - Cai, Ying-Ying
AU  - Li, Shi-Rong
AU  - Hu, Tao
AU  - Yuan, Xiao-Qin
AU  - Guo, Xiao-Yan
AU  - Liu, Hui
AU  - Han, Qing
AU  - Zhou, Qing-Qing
AU  - Shao, Na
AU  - Li, Jian-Peng
AU  - Pan, Ping-Lei
AU  - Ma, Sha
AU  - Shang, Hui-Fang
TI  - Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
JO  - Journal of medical genetics
VL  - 59
IS  - 9
SN  - 0022-2593
CY  - London
PB  - BMJ Publishing Group
M1  - DZNE-2022-00837
SP  - 840-849
PY  - 2022
N1  - CC BY-NC: https://creativecommons.org/licenses/by-nc/4.0/
AB  - A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers.A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed.155 patients, including 26 (40.6
KW  - Amyotrophic Lateral Sclerosis: epidemiology
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - C9orf72 Protein: genetics
KW  - Cohort Studies
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Mutation: genetics
KW  - Superoxide Dismutase-1: genetics
KW  - genetic variation (Other)
KW  - genetics (Other)
KW  - medical (Other)
KW  - neurodegenerative diseases (Other)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC9411893
C6  - pmid:34544842
DO  - DOI:10.1136/jmedgenet-2021-107965
UR  - https://pub.dzne.de/record/164181
ER  -