Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III

por Luan, Xing-Hua, Liu, Jun
Publicado 2017

Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset

por Deng, Wei-Ping, Yang, Zhao, Huang, Xiao-Jun, Jiang, Jing-Wen, Luan, Xing-Hua, Cao, Li
Publicado 2021

Case report: Muscular tuberculosis with lower-extremity muscular masses as the initial presentation: Clinicopathological analysis of two cases and review of the literature

por Zhu, Xiao-wei, Luan, Xing-hua, Jiang, Kai-li, Zhang, Chao, Liu, Shi-hua, Cao, Li, Zhong, Ping, Liu, Zhi-yan
Publicado 2023

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

Altered Local Brain Amplitude of Fluctuations in Patients With Myotonic Dystrophy Type 1

por Huang, Pei, Luan, Xing-Hua, Xie, Zhou, Li, Meng-Ting, Chen, Sheng-Di, Liu, Jun, Jia, Xi-Ze, Cao, Li, Zhou, Hai-Yan
Publicado 2021

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

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

por Yu, Jiaxi, Luan, Xing‐hua, Yu, Meng, Zhang, Wei, Lv, He, Cao, Li, Meng, Lingchao, Zhu, Min, Zhou, Binbin, Wu, Xiao‐rong, Li, Pidong, Gang, Qiang, Liu, Jing, Shi, Xin, Liang, Wei, Jia, Zhirong, Yao, Sheng, Yuan, Yun, Deng, Jianwen, Hong, Daojun, Wang, Zhaoxia
Publicado 2021

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