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CORC

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Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. 期刊论文
Journal of neurology, 2019
作者:  Sun Yanan;  Chen Hai;  Lu Yan;  Duo Jianying;  Lei Lin
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/13
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 21
作者:  Li, Jia;  Xu, Chuan;  Chen, Jiajun;  Zhang, Yingyu
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging 期刊论文
MUSCLE & NERVE, 2018, 卷号: 58, 期号: 4
作者:  Feng, Xuelin;  Luo, Sushan;  Li, Jing;  Yue, Dongyue;  Xi, Jianying
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome 期刊论文
NEUROMUSCULAR DISORDERS, 2017, 卷号: 27, 期号: 6
作者:  Luo, Sushan;  Cai, Shuang;  Maxwell, Susan;  Yue, Dongyue;  Zhu, Wenhua
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J 期刊论文
Molecular Neurobiology, 2016, 卷号: 53, 期号: 8, 页码: 5097-5102
作者:  Zheng, Wen;  Chen, Han;  Deng, Xiong;  Yuan, Lamei;  Yang, Yan
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/03
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy 期刊论文
BRAIN & DEVELOPMENT, 2016, 卷号: 38, 期号: 2, 页码: 242-249
作者:  Ding, Juan;  Zhao, Dandan;  Du, Renqian;  Zhang, Yuehua;  Yang, Haipo
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/16
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy 期刊论文
BRAIN & DEVELOPMENT, 2016, 卷号: 38, 期号: 2
作者:  Ding, Juan;  Zhao, Dandan;  Du, Renqian;  Zhang, Yuehua;  Yang, Haipo
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/13
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy 期刊论文
NEUROLOGY INDIA, 2014, 卷号: 62, 期号: 6
作者:  Xi, Jianying;  Blandin, Gaelle;  Lu, Jiahong;  Luo, Sushan;  Zhu, Wenhua
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19
Vitamin D Receptor mRNA Expression From Muscle Tissue is Significantly Different Between Idiopathic Inflammatory Myopathy and Limb-girdle Muscular Dystrophy Type 2B Patients 期刊论文
2014, 卷号: 31, 期号: 2, 页码: 325-334
作者:  Wang, Jingyang;  Chen, Juan;  Zhang, Jiyan;  Pu, Chuanqiang
收藏  |  浏览/下载：17/0  |  提交时间：2020/01/13
Muscle and Heart Function Restoration in a Limb Girdle Muscular Dystrophy 2I (LGMD2I) Mouse Model by Systemic FKRP Gene Delivery 期刊论文
2014, 卷号: 22, 期号: 11, 页码: 1890-1899
作者:  Qiao, Chunping;  Wang, Chi-Hsien;  Zhao, Chunxia;  Lu, Peijuan;  Awano, Hiroyuki
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/13

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