Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH

por Yang, Kunfang, Yin, Rongrong, Lan, Xiaoping, Zhang, Yuanfeng, Cheng, Hongyi, Wang, Simei, Wang, Chunmei, Lu, Yanfen, Xi, Jiaming, Lu, Qin, Huang, Jianjun, Chen, Yucai
Publicado 2018

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report

por Yang, Kunfang, Cheng, Hongyi, Yuan, Fang, Meng, Linyi, Yin, Rongrong, Zhang, Yuanfeng, Wang, Simei, Wang, Chunmei, Lu, Yanfen, Xi, Jiaming, Lu, Qin, Chen, Yucai
Publicado 2018

MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism

por Wang, Chao, Lin, Longlong, Xue, Yan, Wang, Yilin, Liu, Zhao, Ou, Zicheng, Wu, Shengnan, Lan, Xiaoping, Zhang, Yuanfeng, Yuan, Fang, Luo, Xiaona, Wang, Chunmei, Xi, Jiaming, Sun, Xiaomin, Chen, Yucai
Publicado 2020

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

por Luo, Xiaona, Wang, Chunmei, Lin, Longlong, Yuan, Fang, Wang, Simei, Wang, Yilin, Wang, Anqi, Wang, Chao, Wu, Shengnan, Lan, Xiaoping, Xu, Quanmei, Yin, Rongrong, Cheng, Hongyi, Zhang, Yuanfeng, Xi, Jiaming, Zhang, Jie, Sun, Xiaomin, Yan, Jingbin, Zeng, Fanyi, Chen, Yucai
Publicado 2021