The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China

por HAN, Jingzhe, LU, Shan, SONG, Xueqin, JI, Guang, XIE, Yanan, WU, Hongran
Publicado 2022

Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins

por Lu, Yanpeng, Song, Xueqin, Ji, Guang, Wu, Hongran, Li, Duan, Sun, Shuyan
Publicado 2019

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study

por Han, Jingzhe, Song, Xueqin, Lu, Shan, Ji, Guang, Xie, Yanan, Wu, Hongran
Publicado 2019

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia

por Tang, Jin, Song, Xueqin, Ji, Guang, Wu, Hongran, Sun, Shuyan, Lu, Shan, Li, Yuan, Zhang, Chi, Zhang, Huiqing
Publicado 2018

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient

por Ji, Guang, Wang, Ning, Han, Xu, Wang, Yaye, Zhang, Jinru, Wu, Yue, Wu, Hongran, Ma, Shaojuan, Song, Xueqin
Publicado 2022

Identification of Auxiliary Biomarkers and Description of the Immune Microenvironmental Characteristics in Duchenne Muscular Dystrophy by Bioinformatical Analysis and Experiment

por Han, Xu, Han, Jingzhe, Wang, Ning, Ji, Guang, Guo, Ruoyi, Li, Jing, Wu, Hongran, Ma, Shaojuan, Fang, Pingping, Song, Xueqin
Publicado 2022

NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report

por Ji, Guang, Zhao, Yuan, Zhang, Jian, Dong, Hui, Wu, Hongran, Chen, Xian, Qi, Xiaoming, Tian, Yun, Shen, Lu, Yang, Guofeng, Song, Xueqin
Publicado 2022

Correction: NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report

por Ji, Guang, Zhao, Yuan, Zhang, Jian, Dong, Hui, Wu, Hongran, Chen, Xian, Qi, Xiaoming, Tian, Yun, Shen, Lu, Yang, Guofeng, Song, Xueqin
Publicado 2022

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

por Wang, Ning, Han, Xu, Hao, Shengpu, Han, Jingzhe, Zhou, Xiaomeng, Sun, Shuyan, Tang, Jin, Lu, Yanpeng, Wu, Hongran, Ma, Shaojuan, Song, Xueqin, Ji, Guang
Publicado 2022

Adeno-associated virus serotype 9 mediated vascular endothelial growth factor gene overexpression in mdx mice

por Song, Xueqin, Zhang, Ya, Hou, Zhigang, Wu, Hongran, Lu, Shan, Tang, Jin, Chen, Xuexiao, Cui, Hongying, Li, Yuan, Bi, Yue, Duan, Weisong, Li, Zhongyao, Li, Chunyan
Publicado 2018

Comprehensive analysis of m(6)A regulators characterized by the immune microenvironment in Duchenne muscular dystrophy

por Han, Xu, Ji, Guang, Wang, Ning, Yi, Le, Mao, Yafei, Deng, Jinliang, Wu, Hongran, Ma, Shaojuan, Han, Jingzhe, Bu, Yi, Fang, Pingping, Liu, Juyi, Sun, Fanzhe, Song, Xueqin
Publicado 2023