Showing results 1 to 20 of 74
next >
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 |
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 |
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 |
1-Apr-2021 | Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency | Jiao, Xianru; Gong, Pan; Wu, Ye; Zhang, Yuehua; Yang, Zhixian |
27-Mar-2020 | Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS) | Jiao, Xianru; Xue, Jiao; Gong, Pan; Bao, Xinhua; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian |
2017 | Atonic elements combined or uncombined with epileptic spasms in infantile spasms | Xue, Jiao; Qian, Ping; Li, Hui; Yang, Haipo; Liu, Xiaoyan; Zhang, Yuehua; Yang, Zhixian |
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 |
May-2023 | CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia | Tan, Dandan; Wei, Cuijie; Chen, Zhao; Huang, Yu; Deng, Jianwen; Li, Jingjing; Liu, Yidan; Bao, Xinhua; Xu, Jin; Hu, Zhengmao; Wang, Suxia; Fan, Yanbin; Jiang, Yizheng; Wu, Ye; Wu, Yuan; Wang, Shuang; Liu, Panyan; Zhang, Yuehua; Yang, Zhixian; Jiang, Yuwu; Zhang, Hong; Hong, Daojun; Zhong, Nanbert; Jiang, Hong; Xiong, Hui |
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 |
2010 | Clinical and electrophysiological characteristics of startle epilepsy in childhood | Yang, Zhixian; Liu, Xiaoyan; Qin, Jiong; Zhang, Yuehua; Bao, Xinhua; Wang, Shuang; Chang, Xingzhi |
2016 | Clinical and genetic analysis of two Chinese infants with Mabry syndrome | Xue, Jiao; Li, Hui; Zhang, Yuehua; Yang, Zhixian |
Mar-2020 | Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study | Jiao, Xianru; Xue, Jiao; Gong, Pan; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian |
2016 | Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy | Ding, Juan; Zhao, Dandan; Du, Renqian; Zhang, Yuehua; Yang, Haipo; Liu, Jieyu; Yan, Chuanzhu; Zhang, Feng; Xiong, Hui |
2014 | Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants | Yang, Zhixian; Yang, Xiaoling; Wu, Ye; Wang, Jingmin; Zhang, Yuehua; Xiong, Hui; Jiang, Yuwu; Qin, Jiong |