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A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease 帕金森病中复杂的FGF14 (TTC)/(TGC) 重复扩展 Zheng, Xiaosheng; Cen, Zhidong; Chen, Xinhui; Zhang, Fan; Ying, Chenxin; Jin, Nan; Liu, Peng; Chen, Yilin; Wang, Haotian; Li, Jiaxiang; Trinh, Joanne; Lass, Joshua; Pellerin, David; Danzi, Matt C.; Zuchner, Stephan; Brais, Bernard; Lim, Shen-yang; Tan, Ai Huey; Ahmad-Annuar, Azlina; Yang, Dehao; Wang, Lebo; Lin, Zhiru; Xie, Fei; Wang, Bo; Wu, Sheng; Ouyang, Zhiyuan; Chan, Piu; Hu, Shen; Klein, Christine; Zheng, Hou-Feng; Wang, Chaodong; Luo, Wei 分享 收藏
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RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications RRP12 变体与常染色体隐性脑钙化相关 Edoardo Monfrini MD, PhD; Paola Rinchetti PhD; Mathieu Anheim MD, PhD; Anna Klingseisen PhD; Ouhaid Lagha-Boukbiza MD; Zhidong Cen MD, PhD; Dehao Yang MD, PhD; Xinhui Chen MD; Reza Maroofian PhD; Henry Houlden MD, PhD, FRCP, FRCPath, FMedSci; Gioia Cappelletti PhD; Anne-Claire Richard BS; Olivier Quenez PhD; Camilo Toro MD; Steven J. Frucht MD; Francesco Lotti PhD; Wei Luo MD, PhD; David Hunt MD, PhD; Gael Nicolas MD, PhD; Giulietta M. Riboldi MD, PhD 分享 收藏
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Unveiling distinct clinical manifestations of primary familial brain calcifications in Asian and European patients: A study based on 10-year individual-level data Yang, Dehao; Huang, Honghao; Zeng, Tian; Wang, Lebo; Ying, Chenxin; Chen, Xinhui; Zhou, Xinbo; Sun, Fangyue; Chen, Yilin; Li, Shengqi; Wang, Bo; Wu, Sheng; Xie, Fei; Cen, Zhidong; Luo, Wei 分享 收藏
Molecular HDD logic for encrypted massive data storage 分子HDD逻辑用于加密海量数据存储 Guo, Bingjie; Chen, Xinhui; Chen, An; Wang, Jinxin; Xue, Wuhong; Wang, Tao; Wu, Zhixin; Zhong, Xiaolong; Zeng, Jianmin; Xu, Xiaohong; Liu, Gang 分享 收藏
Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease 长读测序揭示了RFC1相关帕金森病中复杂的双等位基因五核苷酸重复扩展。 Liu, Peng; Zhang, Fan; Chen, Xinhui; Zheng, Xiaosheng; Chen, Miao; Lin, Zhiru; Chen, Shuqi; Wang, Lebo; Wang, Xinchen; Jin, Nan; Ying, Chenxin; Xie, Fei; Wang, Bo; Wu, Sheng; Cen, Zhidong 分享 收藏
(TTTCA)exp Drives the Genotype-Phenotype Correlation and Genetic Anticipation in FCMTE1 Chen, Xinhui; Wang, Bo; Xia, Haibin; Wang, Haotian; Yang, Dehao; Chen, Miao; Yu, Huijun; Zhang, Fan; Kang, Yixin; Chen, Yiling; Jin, Nan; Wang, Lebo; Liu, Peng; Xie, Fei; Fu, Aisi; Hu, Ben; Ouyang, Zhiyuan; Wu, Sheng; Ding, Yao; Ji, Junfeng; Wang, Shuang; Luo, Wei; Cen, Zhidong 分享 收藏
Identification of metabolic progression and subtypes in progressive supranuclear palsy by PET molecular imaging Wang, Haotian; Wang, Bo; Liao, Yi; Niu, Jiaqi; Chen, Miao; Chen, Xinhui; Dou, Xiaofeng; Yu, Congcong; Zhong, Yan; Wang, Jing; Jin, Nan; Kang, Yixin; Zhang, Hong; Tian, Mei; Luo, Wei 分享 收藏
A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification Chen, Xinhui; Shi, Yihua; Fu, Feng; Wang, Lebo; Yu, Hongying; Yang, Dehao; Wang, Xinchen; Ying, Chenxin; Wang, Haoyu; Lin, Zhiru; Wang, Haotian; Zhang, Fan; Zheng, Xiaosheng; Guo, Yuru; Wang, Yaoting; Zeng, Yiheng; Zhao, Miao; Chen, Yiling; Li, Jiaxiang; Xia, Haibin; Chen, Jiawen; Wang, Bo; Wu, Sheng; Xie, Fei; Feng, Jianhua; Cen, Zhidong; Luo, Wei 分享 收藏
Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1-SAMD12 locus Chen, Xinhui; Zhang, Fan; Shi, Yihua; Wang, Haotian; Chen, Miao; Yang, Dehao; Wang, Lebo; Liu, Peng; Xie, Fei; Chen, Jiawen; Fu, Aisi; Hu, Ben; Wang, Bo; Ouyang, Zhiyuan; Wu, Sheng; Lin, Zhiru; Cen, Zhidong; Luo, Wei 分享 收藏
Dysphagia Pattern in Early to Moderate Parkinson's Disease Caused by Abnormal Pharyngeal Kinematic Function Wang, Ping; Chen, Xinhui; Chen, Miao; Gao, Leilei; Xiong, Bing; Ji, Changmeng; Shen, Qian; Shen, Yuanqing; Wu, Sheng; Pan, Yanhong; Li, Jinhui; Wang, Bo; Luo, Wei 分享 收藏
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