A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis

by Liang WANG, Ya-qin LI, Hui-li ZHANG, Yu-ling ZHU, Ruo-jie HE, Huan LI, Jin-fu LIN, Cheng ZHANG
Published 2018-08-01

Study on skeletal muscle dystrophin and neuromuscular junction in adult and young mdx mice

by Yu-ling ZHU, Yi-ming SUN, Hui-li ZHANG, Yu ZHANG, Ya-qin LI, Meng-long CHEN, Liang WANG, Cheng ZHANG
Published 2015-05-01

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

by Hui-li ZHANG, Ze LI, Qiu-sheng CHENG, Xi CHEN, Yu-ling ZHU, Ya-qin LI, Meng-long CHEN, Cheng ZHANG
Published 2018-07-01

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

by Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG
Published 2019-05-01

Genetic analysis and clinical features of familial hypokalemic periodic paralysis

by Hui-li ZHANG, Yi-ming SUN, Min-ying ZHENG, Yu-ling ZHU, Ji-qing CAO, Yu ZHANG, Ya-qin LI, Lang-hui DENG, Cheng ZHANG
Published 2014-06-01

Adipose-derived stem cells enhance myogenic differentiation in the mdx mouse model of muscular dystrophy via paracrine signaling

by Ji-qing Cao, Ying-yin Liang, Ya-qin Li, Hui-li Zhang, Yu-ling Zhu, Jia Geng, Li-qing Yang, Shan-wei Feng, Juan Yang, Jie Kong, Cheng Zhang
Published 2016-01-01

Clinical features and genetic analysis of tuberous sclerosis pedigrees

by Ya⁃qin LI, Ji⁃qing CAO, Juan YANG, Bao⁃feng ZHANG, Shan⁃wei FENG, Yan⁃yun WANG, Yao ZHANG, Fei CHEN, Jie KONG, Min⁃ying ZHENG, Xu ZHANG, Cheng ZHANG
Published 2012-06-01

Clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ

by Juan YANG, Ji-qing CAO, Zhen-hua LIU, Yi-xin ZHAN, Ying-yin LIANG, Gui-ling MO, Ya-qin LI, Yi-ming SUN, Min-zi LI, Jing LI, Cheng ZHANG
Published 2014-05-01

Study on preimplantation genetic diagnosis and follow-up for Duchenne muscular dystrophy

by Juan YANG, Hui-fang XIE, Ji-qing CAO, Hui ZHENG, Can-quan ZHOU, Zhen-hua LIU, Yu-ling ZHU, Yi-xin ZHAN, Xiao-ting SHEN, Ya-qin LI, Cheng ZHANG
Published 2015-06-01

Clinical efficacy of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ

by Juan YANG, Wei-xun FENG, Ji-qing CAO, Yan-yun WANG, Ya-qin LI, Shi-biao HUANG, Yan-jun LUO, Zhuo-lin LIU, Yi-ming SUN, Zhen-hua LIU, Cheng ZHANG
Published 2014-05-01

Clinical study of DMD gene point mutation causing Becker muscular dystrophy

by Ji-qing CAO, Juan YANG, Ya-qin LI, Shan-wei FENG, Fei CHEN, Hui ZHENG, Ying-yin LIANG, Bao-jian ZHAO, Xu ZHANG, Hui-li ZHANG, Yu-ling ZHU, Cheng ZHANG
Published 2015-06-01

Clinical characteristics and gene mutation analysis of riboflavin-responsive lipid storage myopathy: report of 3 cases in 2 families and review of literature

by Ji-qing CAO, Cheng ZHANG, Ya-qin LI, Juan YANG, Ying-yin LIANG, Shan-wei FENG, Xu ZHANG, Jing LI, Hui-li ZHANG, Yu-ling ZHU, Jia GENG, Li-qing YANG
Published 2014-06-01

Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

by Jing LI, Cheng ZHANG, Yi⁃xin ZHANG, Shan⁃wei FENG, Juan YANG, Ji⁃qing CAO, Chang⁃shun YU, Ya⁃qin LI, Yan⁃yun WANG, Fei CHEN, Jie KONG, Min⁃ying ZHENG, Ling LIAO
Published 2012-06-01