Dysferlinopathy in a cohort of Chinese patients: clinical features, mutation spectrum, and imaging findings

por Guo, Qi-Fu, Ye, Zhi-Xian, Qiu, Liang-Liang, Lin, Xin, Lai, Jia-He, Lin, Min-Ting, Wang, Zhi-Qiang, Wang, Ning, Lin, Feng
Publicado 2021

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy

por Lin, Feng, Yang, Kang, Lin, Min‐ting, Zheng, Fu‐ze, Chen, Long, Ding, Yuan‐liang, Ye, Zhi‐xian, Lin, Xin, Wang, Ning, Wang, Zhi‐qiang
Publicado 2023

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

por Lin, Feng, Yang, Kang, Lin, Xin, Jin, Ming, Chen, Long, Zheng, Fu-ze, Qiu, Liang-liang, Ye, Zhi-xian, Chen, Hai-zhu, Lin, Min-ting, Wang, Ning, Wang, Zhi-qiang
Publicado 2023

Altered brain white matter structural motor network in spinocerebellar ataxia type 3

por Chen, Xin‐Yuan, Huang, Zi‐Qiang, Lin, Wei, Li, Meng‐Cheng, Ye, Zhi‐Xian, Qiu, Yu‐Sen, Xia, Xiao‐Yue, Chen, Na‐Ping, Hu, Jian‐Ping, Gan, Shi‐Rui, Chen, Qun‐Lin
Publicado 2022

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

por Qiu, Liang-Liang, Lin, Xiao-Dan, Xu, Guo-Rong, Wang, Li-Li, Ye, Zhi-Xian, Lin, Feng, Chen, Hai-Zhu, Lin, Min-Ting, Cai, Nai-Qing, Jin, Ming, Xu, Liu-Qing, Hu, Wei, Wang, Ning, Wang, Zhi-Qiang
Publicado 2021

Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study

por Qiu, Yu-Sen, Zeng, Yi-Heng, Yuan, Ru-Ying, Ye, Zhi-Xian, Bi, Jin, Lin, Xiao-Hong, Chen, Yi-Jun, Wang, Meng-Wen, Liu, Ying, Yao, Shao-Bo, Chen, Yi-Kun, Jiang, Jun-Yi, Lin, Yi, Lin, Xiang, Wang, Ning, Fu, Ying, Chen, Wan-Jin
Publicado 2022