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| Issue Date | Title | Author(s) |
| 2006 | Acute metabolic crisis induced by vaccination in seven Chinese patients | Yang, Yanling; Sujan, Sayami; Sun, Fang; Zhang, Yuehua; Jiang, Yuwu; Song, Jinqing; Qin, Jiong; Wu, Xiru |
| 2012 | Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience | Liu, Yanyan; Bao, Xinhua; Wang, Dong; Fu, Na; Zhang, Xiaoying; Cao, Guangna; Song, Fuying; Wang, Shuang; Zhang, Yuehua; Qin, Jiong; Yang, Hong; Engelstad, Kristin; De Vivo, Darryl C.; Wu, Xiru |
| 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 |
| 2007 | Alterations of NR2B and PSD-95 expression after early-life epileptiform discharges in developing neurons | Jiang, Qian; Wang, Jingmin; Wu, Xiru; Jiang, Yuwu |
| 2015 | Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome | Xu, Xiaojing; Yang, Xiaoxu; Wu, Qixi; Liu, Aijie; Yang, Xiaoling; Ye, Adam Yongxin; Huang, August Yue; Li, Jiarui; Wang, Meng; Yu, Zhe; Wang, Sheng; Zhang, Zhichao; Wu, Xiru; Wei, Liping; Zhang, Yuehua |
| 2016 | Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation | Yang, Haipo; Manya, Hiroshi; Kobayashi, Kazuhiro; Jiao, Hui; Fu, Xiaona; Xiao, Jiangxi; Li, Xiaoqing; Wang, Jingmin; Jiang, Yuwu; Toda, Tatsushi; Endo, Tamao; Wu, Xiru; Xiong, Hui |
| 2010 | Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome | Sun, Huihui; Zhang, Yuehua; Liu, Xiaoyan; Ma, Xiuwei; Yang, Zhixian; Qin, Jiong; Jiang, Yuwu; Qi, Yu; Wu, Xiru |
| 2010 | Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China | Zhu, Xingwang; Li, Meirong; Pan, Hong; Bao, Xinhua; Zhang, Jingjing; Wu, Xiru |
| 2007 | ARSA gene mutations in five Chinese metachromatic leukodystrophy patients | Wang, Jingmin; Zhang, Weimin; Pan, Hong; Bao, Xinhua; Wu, Ye; Wu, Xiru; Jiang, Yuwu |
| 2019 | ATP1A3 mosaicism in families with alternating hemiplegia of childhood | Yang, Xiaoling; Yang, Xiaoxu; Chen, Jiaoyang; Li, Shupin; Zeng, Qi; Huang, August Y.; Ye, Adam Y.; Yu, Zhe; Wang, Sheng; Jiang, Yuwu; Wu, Xiru; Wu, Qixi; Wei, Liping; Zhang, Yuehua |
| 2014 | ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients | Yang, Xiaoling; Gao, Hua; Zhang, Jie; Xu, Xiaojing; Liu, Xiaoyan; Wu, Xiru; Wei, Liping; Zhang, Yuehua |
| 2006 | CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population | Wang, Juli; Zhang, Yuehua; Liang, Jianmin; Pan, Hong; Wu, Husheng; Xu, Keming; Liu, Xiaoyan; Jiang, Yuwu; Shen, Yan; Wu, Xiru |
| 2010 | Characterization of developing rat cortical neurons after epileptiform discharges | Jiang, Qian; Wu, Ye; Wang, Jingmin; Wu, Xiru; Qin, Jiong; Jiang, Yuwu |
| May-2020 | CHD2-related epilepsy: novel mutations and new phenotypes | Chen, Jiaoyang; Zhang, Jing; Liu, Aijie; Zhang, Liping; Li, Hua; Zeng, Qi; Yang, Zhixian; Yang, Xiaoling; Wu, Xiru; Zhang, Yuehua |
| 2011 | Childhood absence epilepsy: Elctroclinical features and diagnostic criteria | Ma, Xiuwei; Zhang, Yuehua; Yang, Zhixian; Liu, Xiaoyan; Sun, Huihui; Qin, Jiong; Wu, Xiru; Liang, Jianmin |
| 2006 | Clinical and biochemical studies on Chinese patients with methylmalonic aciduria | Yang, Yanling; Sun, Fang; Song, Jinqing; Hasegawa, Yuki; Yamaguchi, Seiji; Zhang, Yuehua; Jiang, Yuwu; Qin, Jiong; Wu, Xiru |
| 2008 | Clinical and genetic study in Chinese patients with Alexander disease | Wu, Ye; Gu, Qiang; Wang, Jingmin; Yang, Yanling; Wu, Xiru; Jiang, Yuwu |
| 2014 | Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients | Zhao, Ying; Zhang, Xiaoying; Bao, Xinhua; Zhang, Qingping; Zhang, Jingjing; Cao, Guangna; Zhang, Jie; Li, Jiarui; Wei, Liping; Pan, Hong; Wu, Xiru |
| May-2021 | Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients | Fan, Yanbin; Tan, Dandan; Song, Danyu; Zhang, Xu; Chang, Xingzhi; Wang, Zhaoxia; Zhang, Cheng; Chan, Sophelia Hoi-Shan; Wu, Qixi; Wu, Liwen; Wang, Shuang; Yan, Hui; Ge, Lin; Yang, Haipo; Mao, Bing; Boennemann, Carsten; Liu, Jingying; Wang, Suxia; Yuan, Yun; Wu, Xiru; Zhang, Hong; Xiong, Hui |
| 2019 | Congenital muscular dystrophies in China | Ge, Lin; Zhang, Cheng; Wang, Zhaoxia; Chan, Sophelia H. S.; Zhu, Wenhua; Han, Chunxi; Zhang, Xiaoli; Zheng, Hong; Wu, Liwen; Jin, Bo; Shan, Jingli; Mao, Bing; Zhong, Jianmin; Peng, Xiaoyin; Cheng, Yaying; Hu, Jun; Sun, Yan; Lu, Junlan; Hua, Ying; Zhu, Sainan; Wei, Cuijie; Wang, Shuo; Jiao, Hui; Yang, Haipo; Fu, Xiaona; Fan, Yanbin; Chang, Xingzhi; Wang, Shuang; Bao, Xinhua; Zhang, Yuehua; Wang, Jingmin; Wu, Ye; Jiang, Yuwu; Yuan, Yun; Rutkowski, Anne; Bonnemann, Carsten G.; Wei, Wei; Wu, Xiru; Xiong, Hui |
