Showing results 1 to 20 of 25
next >
| Issue Date | Title | Author(s) |
| 4-Apr-2022 | Case Report: Systemic Amyloidosis Involving the Heart and Skeletal Muscle | Lv, Pinchao; Li, Yuxi; Wu, Lin; Shi, Qiuping; Meng, Lingchao; Yu, Xiaojuan; Nong, Lin; Li, Jianping |
| Mar-2024 | Clinical and genetic interpretation of uncertain <i>DMD</i> missense variants: evidence from mRNA and protein studies | Xie, Zhiying; Liu, Chang; Yu, Haiyan; Xie, Zhihao; Sun, Chengyue; Zhu, Ying; Hu, Xiaoyu; Bai, Li; Wei, Luhua; Sun, Peng; Lu, Yanyu; Lu, Yunlong; Zhao, Yawen; Zhang, Wei; Wang, Zhaoxia; Meng, Lingchao; Yuan, Yun |
| 2019 | Combined Cerebral Microbleeds With Lacunar Infarctions in Familial Cerebral Cavernous Malformations | Wang, Qi; Meng, Lingchao; Wang, Zhaoxia |
| Mar-2021 | Dissociation of axo-glial junction in anti-neurofascin 155 chronic inflammatory demyelinating polyneuropathy | Lv, He; Meng, Lingchao; Yu, Meng; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun |
| 25-Aug-2022 | Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy | Xie, Zhiying; Liu, Chang; Lu, Yanyu; Sun, Chengyue; Liu, Yilin; Yu, Meng; Shu, Junlong; Meng, Lingchao; Deng, Jianwen; Zhang, Wei; Wang, Zhaoxia; Lv, He; Yuan, Yun |
| 7-Jul-2021 | GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor-Sensory and Autonomic Neuropathy | Wang, Hui; Yu, Jiaxi; Yu, Meng; Deng, Jianwen; Zhang, Wei; Lv, He; Liu, Jing; Shi, Xin; Liang, Wei; Jia, Zhirong; Hong, Daojun; Meng, Lingchao; Wang, Zhaoxia; Yuan, Yun |
| Jun-2021 | GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy | 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 |
| 2018 | HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases | Lu, Yuanyuan; Wu, Rui; Meng, Lingchao; Lv, He; Liu, Jing; Zuo, Yuehuan; Zhang, Wei; Yuan, Yun; Wang, Zhaoxia |
| Apr-2021 | Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study | Du, Kang; Li, Fan; Wang, Hui; Miao, Yuanfeng; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun; Meng, Lingchao |
| 2014 | HETEROGENEITY OF AXONAL PATHOLOGY IN CHINESE PATIENTS WITH GIANT AXONAL NEUROPATHY | Wang, Lu; Zhao, Danhua; Wang, Zhaoxia; Zhang, Wei; Lv, He; Liu, Xiao; Meng, Lingchao; Yuan, Yun |
| 2016 | HETEROGENEOUS CHARACTERISTICS OF MRI CHANGES OF THIGH MUSCLES IN PATIENTS WITH DYSFERLINOPATHY | Jin, Suqin; Du, Jing; Wang, Zhaoxia; Zhang, Wei; Lv, He; Meng, Lingchao; Xiao, Jiangxi; Yuan, Yun |
| 2014 | Interactive crowdsourcing to spontaneous reporting of Adverse Drug Reactions | Chen, Chao; Huang, Yining; Liu, Yi; Liu, Chengdong; Meng, Lingchao; Sun, Yunchuang; Bian, Kaigui; Huang, Anpeng; Duan, Xiaohui; Jiao, Bingli |
| Sep-2020 | Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies | Xie, Zhiying; Sun, Chengyue; Zhang, Siwen; Liu, Yilin; Yu, Meng; Zheng, Yiming; Meng, Lingchao; Acharya, Anushree; Cornejo-Sanchez, Diana M.; Wang, Gao; Zhang, Wei; Schrauwen, Isabelle; Leal, Suzanne M.; Wang, Zhaoxia; Yuan, Yun |
| 26-Feb-2021 | Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy | Du, Kang; Xu, Ke; Cheng, Si; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun; Meng, Lingchao |
| 2019 | A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5 | Meng, Lingchao; Wang, Kang; Lv, He; Wang, Zhaoxia; Zhang, Wei; Yuan, Yun |
| 2023 | Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa | Li, Zhenyu; Li, Yize; Chu, Xujun; Du, Kang; Tang, Yuwei; Xie, Zhiying; Yu, Meng; Deng, Jianwen; Lv, He; Zhang, Wei; Wang, Zhaoxia; Meng, Lingchao; Yuan, Yun |
| 2018 | Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in Chinese patients. | Meng, Lingchao; Fu, Jun; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun |
| 2018 | Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in Chinese patients. | Meng, Lingchao; Fu, Jun; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun |
| Mar-2023 | Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy | Wan, Yalan; Wang, Qi; Zheng, Yiming; Yu, Meng; Xie, Zhiying; Ling, Chen; Meng, Lingchao; Yu, Jiaxi; Zheng, Yilei; Wang, Yikang; Zhang, Wenhao; Liu, Chang; Zhao, Yawen; Yuan, Yun; Deng, Jianwen; Gang, Qiang; Wang, Zhaoxia |
| Jan-2024 | Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress | Wang, Hui; Zheng, Yilei; Yu, Jiaxi; Meng, Lingchao; Zhang, Wei; Hong, Daojun; Wang, Zhaoxia; Yuan, Yun; Deng, Jianwen |
