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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 |
| 2008 | Alpers syndrome with prominent white matter changes | Bao, Xinhua; Wu, Ye; Wong, Lee-Jun C.; Zhang, Yuehua; Xiong, Hui; Chou, Ping-Chieh; Truong, Cavatina K.; Jiang, Yuwu; Qin, Jiong; Yuan, Yun; Lin, Qing; Wu, Xiru |
| 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 |
| 2011 | Asian patients with limb girdle muscular dystrophy 21 (LGMD21) | Hong, Daojun; Zhang, Wei; Wang, Wei; Wang, Zhaoxia; Yuan, Yun |
| 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 |
| 2018 | A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family | Miao, Jing; Su, Fei-fei; Liu, Xue-mei; Wei, Xiao-jing; Yuan, Yun; Yu, Xue-fan |
| 2007 | Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy | Wang, Zhaoxia; Yuan, Yun; Zhang, Wei; Zhang, Ying; Feng, Liqun |
| 2017 | Childhood autoimmune necrotizing myopathy with anti-signal recognition particle antibodies | Zhao, Yawen; Liu, Xiujuan; Zhang, Wei; Yuan, Yun |
| 2010 | Childhood Chronic Inflammatory Demyelinating Polyneuropathy With Nonuniform Pathologic Features | Luan, Xinghua; Zheng, Riliang; Chen, Bin; Yuan, Yun |
| 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 |
| 2016 | Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome | Yu, Meng; Zhang, Zhe; Wang, Qing-Qing; Liu, Jing; Zuo, Yue-Huan; Yu, Lei; Xiao, Jiang-Xi; Zhang, Wei; Yuan, Yun; Wang, Zhao-Xia |
| 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 |
| 2017 | Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease | Lu, Yuan-Yuan; Lyu, He; Jin, Su-Qin; Zuo, Yue-Huan; Liu, Jing; Wang, Zhao-Xia; Zhang, Wei; Yuan, Yun |
| 2006 | The clinical and genetic features of neuronal ceroid lipofuscinosis of China | Bi, Hongyan; 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 |
