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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.
Affiliation
  • Sun SC; Department of Clinical Laboratory, Ruijin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
  • Ma D; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Li MY; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Zhang RX; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Huang C; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Huang HJ; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Xie YZ; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Wang ZJ; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Liu J; Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
  • Cai DC; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Liu CX; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Yang Q; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Bao FX; Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, P.R. China.
  • Gong XL; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Li JR; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Hui Z; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, P.R. China.
  • Wei XF; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Zhong JM; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Zhou WJ; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Shang X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Zhang C; Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, P.R. China.
  • Liu XG; Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, P.R. China.
  • Tang BS; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Xiong F; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Xu XM; Guangdong-Hong Kong-Macao Greater Bay Area Center for Brain Science and Brain-Inspired Intelligence, Guangzhou 510515, P.R. China.
Brain ; 142(8): 2215-2229, 2019 08 01.
Article in En | MEDLINE | ID: mdl-31199454
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Brain Year: 2019 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Brain Year: 2019 Document type: Article Country of publication: