Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease

por Yuan, Ru‐Ying, Ye, Zi‐Ling, Zhang, Xiao‐Rong, Xu, Liu‐Qing, He, Jin
Publicado 2020

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

por Chen, Yi-Jun, Zhang, Zai-Qiang, Wang, Meng-Wen, Qiu, Yu-Sen, Yuan, Ru-Ying, Dong, En-Lin, Zhao, Zhe, Zhou, Hai-Tao, Wang, Ning, Chen, Wan-Jin, Lin, Xiang
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