Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

por Zhang, Yu, Yan, Hui, Liu, Jieyu, Yan, Huifang, Ma, Yinan, Wei, Cuijie, Wang, Zhaoxia, Xiong, Hui, Chang, Xingzhi
Publicado 2022

Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

por Xu, Beiyu, Wei, Cuijie, Hu, Xiao, Li, Wenzhu, Huang, Zhen, Que, Chengli, Qiu, Jianxing, Li, Chunde, Xiong, Hui
Publicado 2022

Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy

por Chang, Xingzhi, Wei, Risheng, Wei, Cuijie, Liu, Jieyu, Qin, Lun, Yan, Hui, Ma, Yinan, Wang, Zhaoxia, Xiong, Hui
Publicado 2022

Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

por Zhang, Shu, Qin, Dongdong, Wu, Liwen, Li, Man, Song, Lifang, Wei, Cuijie, Lu, Chunling, Zhang, Xiaoli, Hong, Siqi, Ma, Mingming, Wu, Shiwen
Publicado 2021

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

por Huang, Xiuli, Tan, Dandan, Zhang, Zaiqiang, Ge, Lin, Liu, Jieyu, Ding, Juan, Yang, Haipo, Wei, Cuijie, Chang, Xingzhi, Yuan, Yun, Yan, Chuanzhu, Xiong, Hui
Publicado 2023

Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature

por Ge, XiuShan, Wei, CuiJie, Dong, Hui, Zhang, YueHua, Bao, XinHua, Wu, Ye, Song, DanYu, Hao, HongJun, Xiong, Hui
Publicado 2022

Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis

por Wei, Cuijie, Liang, Zhenwei, Wu, Ying, Liu, Shan, Qiu, Jianxing, Meng, Lingchao, Li, Chunde, Li, Shuang, Bao, Xinhua, Wang, Zhaoxia, Chen, Luzeng, Xiong, Hui
Publicado 2023

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

por Fan, Yanbin, Xu, Zhifei, Li, Xing, Gao, Feng, Guo, Enyu, Chang, Xingzhi, Wei, Cuijie, Zhang, Cheng, Yu, Qing, Que, Chengli, Xiao, Jiangxi, Yan, Chuanzhu, Wang, Zhaoxia, Yuan, Yun, Xiong, Hui
Publicado 2022

Pediatric Autoimmune Encephalitis: Case Series From Two Chinese Tertiary Pediatric Neurology Centers

por Zhang, Jianzhao, Ji, Taoyun, Chen, Qian, Jiang, Yanan, Cheng, Huan, Zheng, Ping, Ma, Wenqiang, Lei, Ting, Zhang, Yao, Jin, Yiwen, Wei, Cuijie, Wu, Ye, Chang, Xingzhi, Bao, Xinhua, Zhang, Yuehua, Xiong, Hui, Ji, Xinna, Feng, Shuo, Ren, Haitao, Yang, Jian, Jiang, Yuwu
Publicado 2019

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

por Tan, Dandan, Ge, Lin, Fan, Yanbin, Chang, Xingzhi, Wang, Shuang, Wei, Cuijie, Ding, Juan, Liu, Aijie, Wang, Shuo, Li, Xueying, Gao, Kai, Yang, Haipo, Que, Chengli, Huang, Zhen, Li, Chunde, Zhu, Ying, Mao, Bing, Jin, Bo, Hua, Ying, Zhang, Xiaoli, Zhang, Bingbing, Zhu, Wenhua, Zhang, Cheng, Wang, Yanjuan, Yuan, Yun, Jiang, Yuwu, Rutkowski, Anne, Bönnemann, Carsten G., Wu, Xiru, Xiong, Hui
Publicado 2021