Showing results 1 to 20 of 124
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Issue Date | Title | Author(s) |
2017 | Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation | Cheng, Si; Lv, He; Zhang, Wei; Wang, Zhaoxia; Shi, Xin; Liang, Wei; Yuan, Yun |
2019 | Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases | Hou, Yue; Xie, Zhiying; Zhao, Xutong; Yuan, Yun; Dou, Pan; Wang, Zhaoxia |
2023 | Aquaporin 4 Mediates the Effect of Iron Overload on Hydrocephalus After Intraventricular Hemorrhage | Li, Ying; Nan, Ding; Liu, Ran; Li, Jieyu; Zhang, Zhuangzhuang; Deng, Jianwen; Zhang, Yang; Yan, Ziguang; Hou, Chao; Yao, Ensheng; Sun, Weiping; Wang, Zhaoxia; Huang, Yining |
2011 | Asian patients with limb girdle muscular dystrophy 21 (LGMD21) | Hong, Daojun; Zhang, Wei; Wang, Wei; Wang, Zhaoxia; Yuan, Yun |
Apr-2024 | Associations of sleep-related variables with reverse dipping patterns of blood pressure in α-synucleinopathies | Sun, Yunchuang; Wei, Luhua; Li, Fan; Ling, Chen; Zhai, Fei; Lv, Yunfeng; Zhou, Hong; Zhang, Cheng; Ma, Jing; Chen, Jing; Sun, Wei; Wang, Zhaoxia |
12-Jul-2024 | Bioinspired and bioengineered nucleic acid drug carriers | Zuo, Jiamin; Lu, Zhiguo; Guo, Jing; Zhao, Ruichen; Zhang, Tianlu; Wang, Zhaoxia; Yuan, Yun; Deng, Jianwen; Yuan, Junliang; Zhang, Xin |
2010 | Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene | Hong, Daojun; Luan, Xinghua; Chen, Bin; Zheng, Riliang; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun |
27-Feb-2025 | A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in <i>RILPL1</i> | Wang, Wenjing; Yin, Tielun; Zhang, Xinyu; Wang, Zhaoxia; Wang, Tianyun; Zhang, Shuo; Zhang, Yingshuang; Fan, Dongsheng |
23-Dec-2021 | Cerebral large artery occlusion in chronic graft-versus-host disease A case report | Li, Ying; Gao, Feng; Sun, Wei; Wang, Zhaoxia; Jin, Haiqiang |
2022 | Cerebrospinal Fluid sTREM2 Has Paradoxical Association with Brain Structural Damage Rate in Early- and Late-Stage Alzheimer's Disease | Leng, Fangda; Zhan, Zhenying; Sun, Yunchuang; Liu, Fang; Edison, Paul; Sun, Yongan; Wang, Zhaoxia |
2007 | Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy | Wang, Zhaoxia; Yuan, Yun; Zhang, Wei; Zhang, Ying; Feng, Liqun |
25-Dec-2020 | CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations | Ogasawara, Masashi; Iida, Aritoshi; Kumutpongpanich, Theerawat; Ozaki, Ayami; Oya, Yasushi; Konishi, Hirofumi; Nakamura, Akinori; Abe, Ryuta; Takai, Hiroshi; Hanajima, Ritsuko; Doi, Hiroshi; Tanaka, Fumiaki; Nakamura, Hisayoshi; Nonaka, Ikuya; Wang, Zhaoxia; Hayashi, Shinichiro; Noguchi, Satoru; Nishino, Ichizo |
2019 | Characteristics of Pompe disease in China: a report from the Pompe registry | Zhao, Yuying; Wang, Zhaoxia; Lu, Jiahong; Gu, Xuefan; Huang, Yonglan; Qiu, Zhengqing; Wei, Yanping; Yan, Chuanzhu |
2013 | Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion | Zhao, Danhua; Wang, Zhaoxia; Hong, Daojun; Zhang, Wei; Yuan, Yun |
30-Aug-2024 | Circulating cell-free DNA promotes inflammation in dermatomyositis patients with anti-NXP2 antibodies via the cGAS/STING pathway | Wang, Yikang; Zhao, Yawen; Gang, Qiang; Hao, Hongjun; Gao, Feng; Deng, Jianwen; Wang, Zhaoxia; Zhang, Wei; Yuan, Yun; Zheng, Yiming |
2009 | Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2 | Chen, Bin; Zheng, Riliang; Luan, Xinghua; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun |
2014 | Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation | Liu, Xiao; Wang, Zhaoxia; Jin, Weina; Lv, He; Zhang, Wei; Que, Chengli; Huang, Yu; Yuan, Yun |
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 | Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients | Xie, Zhiying; Hou, Yue; Yu, Meng; Liu, Yilin; Fan, Yanbin; Zhang, Wei; Wang, Zhaoxia; Xiong, Hui; Yuan, Yun |
2015 | Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy | Zhao, Juan; Liu, Jing; Xiao, Jiangxi; Du, Jing; Que, Chengli; Shi, Xin; Liang, Wei; Sun, Weiping; Zhang, Wei; Lv, He; Yuan, Yun; Wang, Zhaoxia |