A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

por Yu, Hao, Chen, Yu-Chao, Liu, Gong-Lu, Wu, Zhi-Ying
Publicado 2017

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

por Dong, Hai-Lin, Li, Jia-Qi, Liu, Gong-Lu, Yu, Hao, Wu, Zhi-Ying
Publicado 2021

A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores

por Chen, Lei, Chen, Dian‐Fu, Dong, Hai‐Lin, Liu, Gong‐Lu, Wu, Zhi‐Ying
Publicado 2021

Taste loss as the sole presenting symptom in Chinese patient with facial onset sensory and motor neuronopathy

por Chen, Lu‐Xi, Liu, Gong‐Lu, Yu, Hao, Wu, Zhi‐Ying, Li, Hong‐Fu
Publicado 2021

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

por Wang, Hong-Xia, Li, Hong-Fu, Liu, Gong-Lu, Wen, Xiao-Dan, Wu, Zhi-Ying
Publicado 2016

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie–Tooth disease

por Chen, Cong‐Xin, Li, Jia‐Qi, Dong, Hai‐Lin, Liu, Gong‐Lu, Bai, Ge, Wu, Zhi‐Ying
Publicado 2020

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders

por Zhao, Shao‐Yun, Li, Li‐Xi, Chen, Yu‐Lan, Chen, Yi‐Jun, Liu, Gong‐Lu, Dong, Hai‐Lin, Chen, Dian‐Fu, Li, Hong‐Fu, Wu, Zhi‐Ying
Publicado 2019

Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis

por Liu, Zhi-Jun, Lin, Hui-Xia, Wei, Qiao, Zhang, Qi-Jie, Chen, Cong-Xin, Tao, Qing-Qing, Liu, Gong-Lu, Ni, Wang, Gitler, Aaron D, Li, Hong-Fu, Wu, Zhi-Ying
Publicado 2019

TMEM151A variants cause paroxysmal kinesigenic dyskinesia

por Li, Hong-Fu, Chen, Yu-Lan, Zhuang, Ling, Chen, Dian-Fu, Ke, Hua-Zhen, Luo, Wen-Jiao, Liu, Gong-Lu, Wu, Sheng-Nan, Zhou, Wen-Hao, Xiong, Zhi-Qi, Wu, Zhi-Ying
Publicado 2021

Author Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia

por Li, Hong-Fu, Chen, Yu-Lan, Zhuang, Ling, Chen, Dian-Fu, Ke, Hua-Zhen, Luo, Wen-Jiao, Liu, Gong-Lu, Wu, Sheng-Nan, Zhou, Wen-Hao, Xiong, Zhi-Qi, Wu, Zhi-Ying
Publicado 2021