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

by Xing-Hua Luan, Jun Liu
Published 2017-01-01

Myofibrillar myopathy

by Xing⁃hua LUAN, Yun YUAN
Published 2010-10-01

Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset

by Wei-Ping Deng, Zhao Yang, Xiao-Jun Huang, Jing-Wen Jiang, Xing-Hua Luan, Xing-Hua Luan, Li Cao, Li Cao
Published 2021-02-01

A case of lipid metabolic myopathy: very-long-chain acyl-coenzyme A dehydrogenase deficiency

by Miao-miao HOU, Xing-hua LUAN, Xiao-jun HUANG, Jun LIU, Jian-rong LIU, Sheng-di CHEN
Published 2013-02-01

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

by Wo‐Tu Tian, Hai‐Yan Zhou, Fei‐Xia Zhan, Ze‐Yu Zhu, Jie Yang, Sheng‐Di Chen, Xing‐Hua Luan, Li Cao
Published 2019-06-01

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

by Wo-Tu Tian, Jun-Yi Shen, Xiao-Li Liu, Tian Wang, Xing-Hua Luan, Hai-Yan Zhou, Sheng-Di Chen, Xiao-Jun Huang, Li Cao
Published 2016-01-01

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

by Wo‐Tu Tian, Li‐Hua Liu, Hai‐Yan Zhou, Chao Zhang, Fei‐Xia Zhan, Ze‐Yu Zhu, Sheng‐Di Chen, Xing‐Hua Luan, Li Cao
Published 2020-02-01

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

by Jiaxi Yu, Xing‐hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao‐rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang
Published 2021-06-01

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy

by Wo-Tu Tian, Fei-Xia Zhan, Qing Liu, Xing-Hua Luan, Chao Zhang, Liang Shang, Ben-Yan Zhang, Si-Jian Pan, Fei Miao, Jiong Hu, Ping Zhong, Shi-Hua Liu, Ze-Yu Zhu, Hai-Yan Zhou, Suya Sun, Xiao-Li Liu, Xiao-Jun Huang, Jing-Wen Jiang, Jian-Fang Ma, Ying Wang, Shu-Fen Chen, Hui-Dong Tang, Sheng-Di Chen, Li Cao
Published 2019-12-01