Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

por Xu, Yang-Qi, Liu, Xiao-Li, Huang, Xiao-Jun, Tian, Wo-Tu, Tang, Hui-Dong, Cao, Li
Publicado 2018

Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T

por Tian, Wo‐Tu, Zhou, Hai‐Yan, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Yang, Jie, Chen, Sheng‐Di, Luan, Xing‐Hua, Cao, Li
Publicado 2019

Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18

por Tian, Wo-Tu, Shen, Jun-Yi, Liu, Xiao-Li, Wang, Tian, Luan, Xing-Hua, Zhou, Hai-Yan, Chen, Sheng-Di, Huang, Xiao-Jun, Cao, Li
Publicado 2016

New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

por Tian, Wo‐Tu, Liu, Li‐Hua, Zhou, Hai‐Yan, Zhang, Chao, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Chen, Sheng‐Di, Luan, Xing‐Hua, Cao, Li
Publicado 2020

Depression, Anxiety, and Quality of Life in Paroxysmal Kinesigenic Dyskinesia Patients

por Tian, Wo-Tu, Huang, Xiao-Jun, Liu, Xiao-Li, Shen, Jun-Yi, Liang, Gui-Ling, Zhu, Chen-Xi, Tang, Wei-Guo, Chen, Sheng-Di, Song, Yan-Yan, Cao, Li
Publicado 2017

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy

por Tian, Wo-Tu, Zhan, Fei-Xia, Liu, Qing, Luan, Xing-Hua, Zhang, Chao, Shang, Liang, Zhang, Ben-Yan, Pan, Si-Jian, Miao, Fei, Hu, Jiong, Zhong, Ping, Liu, Shi-Hua, Zhu, Ze-Yu, Zhou, Hai-Yan, Sun, Suya, Liu, Xiao-Li, Huang, Xiao-Jun, Jiang, Jing-Wen, Ma, Jian-Fang, Wang, Ying, Chen, Shu-Fen, Tang, Hui-Dong, Chen, Sheng-Di, Cao, Li
Publicado 2019