Reply to: “THAP11 CAG Expansion Beyond Chinese‐Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank”
Wei, Cuijie, Chen, Zhao, Tan, Dandan, Jiang, Hong, Zhong, Nanbert, Xiong, Hui
Published in Movement disorders (01.12.2023)
Published in Movement disorders (01.12.2023)
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CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia
Tan, Dandan, Wei, Cuijie, Chen, Zhao, Huang, Yu, Deng, Jianwen, Li, Jingjing, Liu, Yidan, Bao, Xinhua, Xu, Jin, Hu, Zhengmao, Wang, Suxia, Fan, Yanbin, Jiang, Yizheng, Wu, Ye, Wu, Yuan, Wang, Shuang, Liu, Panyan, Zhang, Yuehua, Yang, Zhixian, Jiang, Yuwu, Zhang, Hong, Hong, Daojun, Zhong, Nanbert, Jiang, Hong, Xiong, Hui
Published in Movement disorders (01.07.2023)
Published in Movement disorders (01.07.2023)
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Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy
Zhang, Shu, Qin, Dongdong, Wu, Liwen, Li, Man, Song, Lifang, Wei, Cuijie, Lu, Chunling, Zhang, Xiaoli, Hong, Siqi, Ma, Mingming, Wu, Shiwen
Published in Orphanet journal of rare diseases (28.04.2021)
Published in Orphanet journal of rare diseases (28.04.2021)
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Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis
Wei, Cuijie, Liang, Zhenwei, Wu, Ying, Liu, Shan, Qiu, Jianxing, Meng, Lingchao, Li, Chunde, Li, Shuang, Bao, Xinhua, Wang, Zhaoxia, Chen, Luzeng, Xiong, Hui
Published in Orphanet journal of rare diseases (17.02.2023)
Published in Orphanet journal of rare diseases (17.02.2023)
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Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre
Zhang, Yu, Yan, Hui, Liu, Jieyu, Yan, Huifang, Ma, Yinan, Wei, Cuijie, Wang, Zhaoxia, Xiong, Hui, Chang, Xingzhi
Published in BMC pediatrics (26.01.2022)
Published in BMC pediatrics (26.01.2022)
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Treatment of childhood intraneural perineurioma: A case report and literature review
Li, Rongpei, Zhang, Yao, Li, Guanggui, Wei, Cuijie, Xiong, Hui, Chang, Xingzhi
Published in Heliyon (15.03.2024)
Published in Heliyon (15.03.2024)
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Pediatric Autoimmune Encephalitis: Case Series From Two Chinese Tertiary Pediatric Neurology Centers
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
Published in Frontiers in neurology (22.08.2019)
Published in Frontiers in neurology (22.08.2019)
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Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
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
Published in Orphanet journal of rare diseases (19.07.2021)
Published in Orphanet journal of rare diseases (19.07.2021)
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Correlation of Phenotype-Genotype and Protein Structure in RYR1 -Related Myopathy
Chang, Xingzhi, Wei, Risheng, Wei, Cuijie, Liu, Jieyu, Qin, Lun, Yan, Hui, Ma, Yinan, Wang, Zhaoxia, Xiong, Hui
Published in Frontiers in neurology (26.05.2022)
Published in Frontiers in neurology (26.05.2022)
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Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
Xu, Beiyu, Wei, Cuijie, Hu, Xiao, Li, Wenzhu, Huang, Zhen, Que, Chengli, Qiu, Jianxing, Li, Chunde, Xiong, Hui
Published in Frontiers in neurology (25.04.2022)
Published in Frontiers in neurology (25.04.2022)
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Unique genotype-phenotype correlations within LAMA2 -related limb girdle muscular dystrophy in Chinese patients
Huang, Xiuli, Tan, Dandan, Zhang, Zaiqiang, Ge, Lin, Liu, Jieyu, Ding, Juan, Yang, Haipo, Wei, Cuijie, Chang, Xingzhi, Yuan, Yun, Yan, Chuanzhu, Xiong, Hui
Published in Frontiers in neurology (03.05.2023)
Published in Frontiers in neurology (03.05.2023)
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Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients
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
Published in Frontiers in genetics (16.03.2022)
Published in Frontiers in genetics (16.03.2022)
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Congenital muscular dystrophies in China
Ge, Lin, Zhang, Cheng, Wang, Zhaoxia, Chan, Sophelia H.S., Zhu, Wenhua, Han, Chunxi, Zhang, Xiaoli, Zheng, Hong, Wu, Liwen, Jin, Bo, Shan, Jingli, Mao, Bing, Zhong, Jianmin, Peng, Xiaoyin, Cheng, Yaying, Hu, Jun, Sun, Yan, Lu, Junlan, Hua, Ying, Zhu, Sainan, Wei, Cuijie, Wang, Shuo, Jiao, Hui, Yang, Haipo, Fu, Xiaona, Fan, Yanbin, Chang, Xingzhi, Wang, Shuang, Bao, Xinhua, Zhang, Yuehua, Wang, Jingmin, Wu, Ye, Jiang, Yuwu, Yuan, Yun, Rutkowski, Anne, Bönnemann, Carsten G., Wei, Wei, Wu, Xiru, Xiong, Hui
Published in Clinical genetics (01.09.2019)
Published in Clinical genetics (01.09.2019)
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Journal Article
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients
Song, Danyu, Fu, Xiaona, Ge, Lin, Chang, Xingzhi, Wei, Cuijie, Liu, Jieyu, Yang, Haipo, Qu, Suqing, Bao, Xinhua, Toda, Tatsushi, Wu, Xiru, Xiong, Hui
Published in Clinical genetics (01.05.2020)
Published in Clinical genetics (01.05.2020)
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FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies
Fu, Xiaona, Yang, Haipo, Wei, Cuijie, Jiao, Hui, Wang, Shuo, Yang, Yanling, Han, Chunxi, Wu, Xiru, Xiong, Hui
Published in Journal of human genetics (01.12.2016)
Published in Journal of human genetics (01.12.2016)
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Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
Ge, XiuShan, Wei, CuiJie, Dong, Hui, Zhang, YueHua, Bao, XinHua, Wu, Ye, Song, DanYu, Hao, HongJun, Xiong, Hui
Published in Frontiers in pediatrics (11.05.2022)
Published in Frontiers in pediatrics (11.05.2022)
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HPLC-PDA combined with chemometrics for chemical markers of Paeoniae Radix Alba before and after sulfur-fumigated
Jia, Xiaozhou, Liang, Yueyi, Chen, Fang, Liu, Xiaoxia, Wei, Cuijie, Ding, Qing, Chen, Xiangdong, Sun, Dongmei, Wei, Mei
Published in Results in Chemistry (01.01.2021)
Published in Results in Chemistry (01.01.2021)
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Q-Marker Prediction of Astragali Complanati Semen Based on Fingerprint and Network Pharmacology
Jia, Xiaozhou, Lv, Weisheng, Wei, Cuijie, Liang, Yueyi, Yang, Jie, Hou, Xuxuan, Li, Zhenyu, Chen, Xiangdong, Wei, Mei, Sun, Dongmei
Published in Journal of AOAC International (14.10.2024)
Published in Journal of AOAC International (14.10.2024)
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Prevalence of Adeno-Associated Virus-9-Neutralizing Antibody in Chinese Patients with Duchenne Muscular Dystrophy
Wei, Cuijie, Li, Dongliang, Zhang, Meng, Zhao, Yanping, Liu, Yidan, Fan, Yanbin, Wang, Lu, Liu, Jieyu, Chang, Xingzhi, Jiang, Yuwu, Xiong, Hui
Published in Human gene therapy (01.01.2024)
Published in Human gene therapy (01.01.2024)
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Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies
Yang, Haipo, Song, Danyu, Liu, Yidan, Chen, Xiaoyu, Zhu, Ying, Wei, Cuijie, Fu, Xiaona, Liu, Xiaoyan, Yang, Zhixian, Xiong, Hui
Published in Seizure (London, England) (01.10.2022)
Published in Seizure (London, England) (01.10.2022)
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