Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Tian, Yun, Wang, Jun-Ling, Huang, Wen, Zeng, Sheng, Jiao, Bin, Liu, Zhen, Chen, Zhao, Li, Yujing, Wang, Ying, Min, Hao-Xuan, Wang, Xue-Jing, You, Yong, Zhang, Ru-Xu, Chen, Xiao-Yu, Yi, Fang, Zhou, Ya-Fang, Long, Hong-Yu, Zhou, Chao-Jun, Hou, Xuan, Wang, Jun-Pu, Xie, Bin, Liang, Fan, Yang, Zhuan-Yi, Sun, Qi-Ying, Allen, Emily G., Shafik, Andrew Mark, Kong, Ha Eun, Guo, Ji-Feng, Yan, Xin-Xiang, Hu, Zheng-Mao, Xia, Kun, Jiang, Hong, Xu, Hong-Wei, Duan, Ran-Hui, Jin, Peng, Tang, Bei-Sha, Shen, Lu
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease
He, Jin, Liu, Xiao‐Xuan, Ma, Ming‐Ming, Lin, Jing‐Jing, Fu, Jun, Chen, Yi‐Kun, Xu, Guo‐Rong, Xu, Liu‐Qing, Fu, Zhi‐Fei, Xu, Dan, Chen, Wen‐Feng, Cao, Chun‐Yan, Shi, Yan, Zeng, Yi‐Heng, Zhang, Jing, Chen, Xiao‐Chun, Zhang, Ru‐Xu, Wang, Ning, Kennerson, Marina, Fan, Dong‐Sheng, Chen, Wan‐Jin
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Published in Annals of neurology (01.02.2023)
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Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study
Gao, Chang‐Qing, Wang, Shan‐Ni, Wang, Mei‐Mei, Li, Jing‐Jing, Qiao, Jiao‐Jiao, Huang, Juan‐Juan, Zhang, Xu‐Xiang, Xiang, Ya‐Qin, Xu, Qian, Wang, Jun‐Ling, Liu, Zheng‐Hua, Wang, Jian‐Gang, Chen, Zhi‐Heng, Hu, Ping‐An, Song, Zhi, Gu, Shao‐Juan, Zhang, Ru‐Xu, Lei, Li‐Fang, Zhan, Ke‐Bin, Long, Yi‐Ting, Zhang, Yang, Ye, Min, Zhong, Zhe, Liu, Yun‐Bo, Zhang, Chen, He, Zheng‐Ming, Fang, Xiang, Peng, Jian‐Guo, Wang, Chun‐Yu, Xu, Hui, Xia, Bing‐Hua, Shen, Lu, Tang, Bei‐Sha, Zheng, Cui‐Wei, Li, Ya‐An, Guo, Ji‐Feng
Published in Movement disorders (01.09.2022)
Published in Movement disorders (01.09.2022)
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Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China
Liu, Lei, Li, Xiao-Bo, Hu, Zheng-Mao, Huang, Shun-Xiang, Tang, Bei-Sha, Zhang, Ru-Xu
Published in Chinese medical journal (05.11.2020)
Published in Chinese medical journal (05.11.2020)
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Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease
Sun, Shun-Chang, Ma, Di, Li, Mei-Yi, Zhang, Ru-Xu, Huang, Cheng, Huang, Hua-Jie, Xie, Yong-Zhi, Wang, Zhong-Ju, Liu, Jun, Cai, De-Cheng, Liu, Cui-Xian, Yang, Qi, Bao, Fei-Xiang, Gong, Xiao-Li, Li, Jie-Ru, Hui, Zheng, Wei, Xiao-Feng, Zhong, Jian-Mei, Zhou, Wan-Jun, Shang, Xuan, Zhang, Cheng, Liu, Xing-Guo, Tang, Bei-Sha, Xiong, Fu, Xu, Xiang-Min
Published in Brain (London, England : 1878) (01.08.2019)
Published in Brain (London, England : 1878) (01.08.2019)
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Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
TANG, Bei-Sha, ZHAO, Guo-Hua, CHENG ZHANG, LU SHEN, HONG JIANG, LONG, Zhi-Gao, DAI, He-Ping, WEI LUO, KUN XIA, FANG CAI, QIAN PAN, ZHANG, Ru-Xu, ZHANG, Fu-Feng, LIU, Xiao-Min, BIAO CHEN
Published in Human genetics (01.02.2005)
Published in Human genetics (01.02.2005)
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Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth
Zhao, Xin, Jiang, Ming-Ming, Yan, Yi-Zhou, Liu, Lei, Xie, Yong-Zhi, Li, Xiao-Bo, Hu, Zheng-Mao, Zi, Xiao-Hong, Xia, Kun, Tang, Bei-Sha, Zhang, Ru-Xu
Published in Chinese medical journal (20.01.2018)
Published in Chinese medical journal (20.01.2018)
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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
Huang, Xiao‐Jun, Wang, Shi‐Ge, Guo, Xia‐Nan, Tian, Wo‐Tu, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Yin, Xiao‐Meng, Liu, Qing, Yin, Kai‐Li, Liu, Xiao‐Rong, Zhang, Yu, Liu, Zhen‐Guo, Liu, Xiao‐Li, Zheng, Lan, Wang, Tian, Wu, Li, Rong, Tian‐Yi, Wang, Yan, Zhang, Mei, Bi, Guang‐Hui, Tang, Wei‐Guo, Zhang, Chao, Zhong, Ping, Wang, Chun‐Yu, Tang, Jian‐Guang, Lu, Wei, Zhang, Ru‐Xu, Zhao, Guo‐Hua, Li, Xun‐Hua, Li, Hua, Chen, Tao, Li, Hai‐Yan, Luo, Xiao‐Guang, Song, Yan‐Yan, Tang, Hui‐Dong, Luan, Xing‐Hua, Zhou, Hai‐Yan, Tang, Bei‐Sha, Chen, Sheng‐Di, Cao, Li
Published in Movement disorders (01.08.2020)
Published in Movement disorders (01.08.2020)
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Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.
Zhang, Ru-Xu, Guo, Peng, Ren, Zhi-Jun, Zhao, Guo-Hua, Liu, San-Mei, Liu, Ting, Zi, Xiao-Hong, Hu, Zheng-Mao, Xia, Kun, Tang, Bei-Sha
Published in Yíchuán (01.08.2010)
Published in Yíchuán (01.08.2010)
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The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L
Li, Shu-jian, Tang, Bei-sha, Zhao, Guo-hua, Zhang, Ru-xu, Xia, Kun, Pan, Qian
Published in Zhonghua yi xue yi chuan xue za zhi (01.10.2011)
Published in Zhonghua yi xue yi chuan xue za zhi (01.10.2011)
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Soil Organic Carbon Stocks and Its Driving Factors Under Different Land-Use Patterns in Semiarid Grasslands of the Loess Plateau, China
Zhang, Hao, Li, Jianping, Zhang, Yi, Wang, Yutao, Zhang, Juan, Luo, Xu, Zhang, Ru
Published in Nature environment and pollution technology (01.09.2021)
Published in Nature environment and pollution technology (01.09.2021)
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The progress in diagnosis and treatment of transthyretin amyloid polyneuropathy
ZHU Xi⁃ying, LIU Lei, ZHANG Ru⁃xu
Published in Zhongguo xian dai shen jing ji bing za zhi (01.06.2021)
Published in Zhongguo xian dai shen jing ji bing za zhi (01.06.2021)
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Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families
Zhan, Ya-jing, Zi, Xiao-hong, Li, Lin, Li, Xiao-bo, Huang, Shun-xiang, Li, Lan, Li, Xi-gui, Hu, Zheng-mao, Pan, Qian, Xia, Kun, Tang, Bei-sha, Zhang, Ru-xu
Published in Zhong hua yi xue za zhi (05.06.2012)
Published in Zhong hua yi xue za zhi (05.06.2012)
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Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain
Zhang, Ru-xu, Yang, Xi, Zi, Xiao-hong, Li, Xiao-bo, Xia, Kun, Liu, Ting, Liu, San-mei, Li, Lin, Zhan, Ya-jing, Li, Lan, Pan, Qian, Tang, Bei-sha
Published in Zhonghua yi xue yi chuan xue za zhi (01.10.2011)
Published in Zhonghua yi xue yi chuan xue za zhi (01.10.2011)
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Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease
Zhang, Fu-feng, Tang, Bei-sha, Zhao, Guo-hua, Chen, Biao, Zhang, Cheng, Luo, Wei, Liu, Xiao-min, Xia, Kun, Cai, Fang, Hu, Zheng-mao, Yan, Xin-xiang, Zhang, Ru-xu, Guo, Peng
Published in Zhonghua yi xue yi chuan xue za zhi (01.08.2005)
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Published in Zhonghua yi xue yi chuan xue za zhi (01.08.2005)
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Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease
Zhang, Ru-xu, Fu, Min, Zi, Xiao-hong, Li, Xiao-bo, Zhang, Fu-feng, Xia, Kun, Pan, Qian, Hu, Zheng-mao, Tang, Bei-Sha
Published in Zhong hua yi xue za zhi (22.12.2009)
Published in Zhong hua yi xue za zhi (22.12.2009)
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Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease
Zhang, Ru-xu, Luo, Wei, Zi, Xiao-hong, Xia, Kun, Cai, Fang, Xiao, Jian-feng, Zhao, Guo-hua, Zhang, Fu-feng, Shen, Lu, Jiang, Hong, Tang, Bei-sha
Published in Beijing da xue xue bao. Journal of Peking University. Yi xue ban (18.02.2005)
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Published in Beijing da xue xue bao. Journal of Peking University. Yi xue ban (18.02.2005)
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Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L
Zhang, Ru-xu, Tang, Bei-sha, Zi, Xiao-hong, Xia, Kun, Pan, Qian, Zhang, Fu-feng, Li, Shu-jian, Zhao, Guo-hua, Guo, Ke
Published in Zhonghua yi xue yi chuan xue za zhi (01.12.2006)
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Published in Zhonghua yi xue yi chuan xue za zhi (01.12.2006)
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Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L
Zhang, Ru-xu, Tang, Bei-sha, Zi, Xiao-hong, Luo, Wei, Xia, Kun, Pan, Qian, Hu, Zheng-mao, Zhao, Guo-hua, Guo, Ke
Published in Zhonghua yi xue yi chuan xue za zhi (01.04.2006)
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Published in Zhonghua yi xue yi chuan xue za zhi (01.04.2006)
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