Browsing by Author Yuan, Yun

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Issue DateTitleAuthor(s)
2017Adult-onset demyelinating neuropathy associated with FBLN5 gene mutationCheng, Si; Lv, He; Zhang, Wei; Wang, Zhaoxia; Shi, Xin; Liang, Wei; Yuan, Yun
2008Alpers syndrome with prominent white matter changesBao, 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
2019Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseasesHou, Yue; Xie, Zhiying; Zhao, Xutong; Yuan, Yun; Dou, Pan; Wang, Zhaoxia
2011Asian patients with limb girdle muscular dystrophy 21 (LGMD21)Hong, Daojun; Zhang, Wei; Wang, Wei; Wang, Zhaoxia; Yuan, Yun
2010Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A geneHong, Daojun; Luan, Xinghua; Chen, Bin; Zheng, Riliang; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun
2018A 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 familyMiao, Jing; Su, Fei-fei; Liu, Xue-mei; Wei, Xiao-jing; Yuan, Yun; Yu, Xue-fan
2007Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathyWang, Zhaoxia; Yuan, Yun; Zhang, Wei; Zhang, Ying; Feng, Liqun
2017Childhood autoimmune necrotizing myopathy with anti-signal recognition particle antibodiesZhao, Yawen; Liu, Xiujuan; Zhang, Wei; Yuan, Yun
2010Childhood Chronic Inflammatory Demyelinating Polyneuropathy With Nonuniform Pathologic FeaturesLuan, Xinghua; Zheng, Riliang; Chen, Bin; Yuan, Yun
2013Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletionZhao, Danhua; Wang, Zhaoxia; Hong, Daojun; Zhang, Wei; Yuan, Yun
2009Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2Chen, Bin; Zheng, Riliang; Luan, Xinghua; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun
2016Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre SyndromeYu, Meng; Zhang, Zhe; Wang, Qing-Qing; Liu, Jing; Zuo, Yue-Huan; Yu, Lei; Xiao, Jiang-Xi; Zhang, Wei; Yuan, Yun; Wang, Zhao-Xia
2014Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutationLiu, Xiao; Wang, Zhaoxia; Jin, Weina; Lv, He; Zhang, Wei; Que, Chengli; Huang, Yu; Yuan, Yun
2017Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 DiseaseLu, Yuan-Yuan; Lyu, He; Jin, Su-Qin; Zuo, Yue-Huan; Liu, Jing; Wang, Zhao-Xia; Zhang, Wei; Yuan, Yun
2006The clinical and genetic features of neuronal ceroid lipofuscinosis of ChinaBi, Hongyan; Yuan, Yun
Mar-2024Clinical and genetic interpretation of uncertain <i>DMD</i> missense variants: evidence from mRNA and protein studiesXie, 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
2019Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patientsXie, Zhiying; Hou, Yue; Yu, Meng; Liu, Yilin; Fan, Yanbin; Zhang, Wei; Wang, Zhaoxia; Xiong, Hui; Yuan, Yun
2015Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal MyopathyZhao, Juan; Liu, Jing; Xiao, Jiangxi; Du, Jing; Que, Chengli; Shi, Xin; Liang, Wei; Sun, Weiping; Zhang, Wei; Lv, He; Yuan, Yun; Wang, Zhaoxia
2016Clinical and muscular pathological characteristics of hypomyopathic dermatomyositis: an analysis of six casesZhang, Xiao-Lei; Hong, Dao-Jun; Yuan, Yun
2008The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese familyLu, He; Luan, Xinhua; Yuan, Yun; Dong, Mingrui; Sun, Weiping; Yan, Chuanzhu