Cerebellar Ataxia Secondary to Leukodystrophy with a Frameshift CST3 Variant von Zeng, Yi‐Heng, Zuo, Dan‐Dan, Wang, Zhi‐Qiang, Zhu, Jiting

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GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy von Zeng, Yi‐Heng, Yang, Kang, Du, Gan‐Qin, Chen, Yi‐Kun, Cao, Chun‐Yan, Qiu, Yu‐Sen, He, Jin, Lv, Hai‐Dong, Qu, Qian‐Qian, Chen, Jian‐Nan, Xu, Guo‐Rong, Chen, Long, Zheng, Fu‐Ze, Zhao, Miao, Lin, Min‐Ting, Chen, Wan‐Jin, Hu, Jing, Wang, Zhi‐Qiang, Wang, Ning

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Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene von Li, Yun‐Lu, Lv, Wen‐Qi, Zeng, Yi‐Heng, Chen, Yi‐Kun, Wang, Xian‐Long, Yang, Kang, Ding, Yuan‐Liang, Chen, Ru‐Kai, Wang, Ning, Chen, Wan‐Jin

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Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease von 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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Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization von Lin, Xiang, Jiang, Jun‐Yi, Hong, Dao‐jun, Lin, Kai‐Jun, Li, Jin‐Jing, Chen, Yi‐Jun, Qiu, Yu‐sen, Wang, Zishuai, Liao, Yi‐Chu, Yang, Kang, Shi, Yan, Wang, Meng‐wen, Hsu, Shao‐Lun, Hong, Shunyan, Zeng, Yi‐Heng, Chen, Xiao‐Chun, Wang, Ning, Lee, Yi‐Chung, Chen, Wan‐Jin

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Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation von Yang, Kang, Zeng, Yi-Heng, Qiu, Yu-Sen, Lin, Feng, Chen, Hai-Zhu, Jin, Ming, Chen, Long, Zheng, Fu-Ze, Ding, Yuan-Liang, Cao, Chun-Yan, Lin, Min-Ting, Chen, Wan-Jin, Wang, Zhi-Qiang, Wang, Ning

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Identification of SLC20A2 deletions in patients with primary familial brain calcification von Guo, Xin‐Xin, Su, Hui‐Zhen, Zou, Xiao‐Huan, Lai, Lu‐Lu, Lu, Ying‐Qian, Wang, Chong, Li, Yun‐Lu, Hong, Jing‐Mei, Zhao, Miao, Lin, Kun‐Xin, Lin, Jie, Zeng, Yi‐Heng, Yao, Xiang‐Ping, Wang, Ning, Chen, Wan‐Jin

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Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification von Zeng, Yi-Heng, Lin, Bi-Wei, Su, Hui-Zhen, Guo, Xin-Xin, Li, Yun-Lu, Lai, Lu-Lu, Chen, Wan-Jin, Zhao, Miao, Yao, Xiang-Ping

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Knockdown of myorg leads to brain calcification in zebrafish von Zhao, Miao, Lin, Xiao-Hong, Zeng, Yi-Heng, Su, Hui-Zhen, Wang, Chong, Yang, Kang, Chen, Yi-Kun, Lin, Bi-Wei, Yao, Xiang-Ping, Chen, Wan-Jin

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Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation von Lin, Jingjing, Li, Yun‐Lu, Chen, Bo‐Li, Su, Hui‐Zhen, Zeng, Yi‐Heng, Zeng, Rui‐Huang, Zhang, Yu‐Duo, Chen, Ru‐Kai, Cai, Nai‐Qing, Chen, Yi‐Kun, Yuan, Ru‐Ying, Jiang, Jun‐Yi, Yao, Xiang‐Ping, Wang, Ning, Chen, Wan‐Jin, Yang, Kang

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Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study von Qiu, Yu-Sen, Zeng, Yi-Heng, Yuan, Ru-Ying, Ye, Zhi-Xian, Bi, Jin, Lin, Xiao-Hong, Chen, Yi-Jun, Wang, Meng-Wen, Liu, Ying, Yao, Shao-Bo, Chen, Yi-Kun, Jiang, Jun-Yi, Lin, Yi, Lin, Xiang, Wang, Ning, Fu, Ying, Chen, Wan-Jin

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia von Zeng, Yi-Heng, Gan, Shi-Rui, Chen, Wan-Jin, Chen, Zhongbo, Tucci, Arianna, Ryten, Mina, Brais, Bernard, Pellerin, David, Danzi, Matt C.

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Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome von Zeng, Yi-Heng, Zhao, Miao, Guo, Xin-Xin, Wang, Ning, Chen, Wan-Jin

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Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model von Zhao, Miao, Cheng, Xuewen, Chen, Lei, Zeng, Yi-Heng, Lin, Kai-Jun, Li, Yun-Lu, Zheng, Ze-Hong, Huang, Xue-Jing, Zuo, Dan-Dan, Guo, Xin-Xin, Guo, Jun, He, Dian, Liu, Ying, Lin, Yu, Wang, Chong, Lv, Wen-Qi, Su, Hui-Zhen, Yao, Xiang-Ping, Ye, Zi-Ling, Chen, Xiao-Hong, Lu, Ying-Qian, Huang, Chen-Wei, Yang, Guang, Zhang, Yu-Xian, Lin, Min-Ting, Wang, Ning, Xiong, Zhi-Qi, Chen, Wan-Jin

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Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia von Zheng, Ze-Hong, Cao, Chun-Yan, Cheng, Bi, Yuan, Ru-Ying, Zeng, Yi-Heng, Guo, Zhang-Bao, Qiu, Yu-Sen, Lv, Wen-Qi, Liang, Hui, Li, Jin-Lan, Zhang, Wei-Xiong, Fang, Min-Kun, Sun, Yu-Hao, Lin, Wei, Hong, Jing-Mei, Gan, Shi-Rui, Wang, Ning, Chen, Wan-Jin, Du, Gan-Qin, Fang, Ling

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Loss of function of CMPK2 causes mitochondria deficiency and brain calcification von Zhao, Miao, Su, Hui-Zhen, Zeng, Yi-Heng, Sun, Yuan, Guo, Xin-Xin, Li, Yun-Lu, Wang, Chong, Zhao, Zhi-Yuan, Huang, Xue-Jing, Lin, Kai-Jun, Ye, Zi-Ling, Lin, Bi-Wei, Hong, Shunyan, Zheng, Jitan, Liu, Yao-Bin, Yao, Xiang-Ping, Yang, Dehao, Lu, Ying-Qian, Chen, Hai-Zhu, Zuo, Erwei, Yang, Guang, Wang, Hong-Tao, Huang, Chen-Wei, Lin, Xiao-Hong, Cen, Zhidong, Lai, Lu-Lu, Zhang, Yan-Ke, Li, Xi, Lai, Tianmin, Lin, Jingjing, Zuo, Dan-Dan, Lin, Min-Ting, Liou, Chia-Wei, Kong, Qing-Xia, Yan, Chuan-Zhu, Xiong, Zhi-Qi, Wang, Ning, Luo, Wei, Zhao, Cui-Ping, Cheng, Xuewen, Chen, Wan-Jin

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Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome von Zeng, Yi-Heng, Zhao, Miao, Guo, Xin-Xin, Wang, Ning, Chen, Wan-Jin

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Interleukin-8 induces the endothelial cell migration through the activation of phosphoinositide 3-kinase-Rac1/RhoA pathway von Lai, Yi, Shen, Yang, Liu, Xiao-Heng, Zhang, Yi, Zeng, Ye, Liu, Ying-Fen

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THERAPY BASED ON INTRACEREBRAL PHOSPHATE HOMEOSTASIS PROMOTER von ZHAO, Miao, CHEN, Lei, CHEN, Wan-Jin, ZENG, Yi-Heng, CHENG, Xuewen, XIONG, Zhi-Qi

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Lung-protective Ventilation in Patients with Brain Injury： A Multicenter Cross-sectional Study and Questionnaire Survey in China von Luo, Xu-Ying, Hu, Ying-Hong, Cao, Xiang-Yuan, Kang, Yan, Liu, Li-Ping, Wang, Shou-Hong, Yu, Rong-Guo, Yu, Xiang-You, Zhang, Xia, Li, Bao-Shan, Ma, Zeng-Xiang, Weng, Yi-Bing, Zhang, Heng, Chen, De-Chang, Chen, Wei, Chen, Wen-Jin, Chen, Xiu-Mei, Du, Bin, Duan, Mei-Li, Hu, Jin, Huang, Yun-Feng, Jia, Gui-Jun, Li, Li-Hong, Liang, Yu-Min, Qin, Bing-Yu, Wang, Xian-Dong, Xiong, Jian, Yan, Li-Mei, Yang, Zheng-Ping, Dong, Chen-Ming, Wang, Dong-Xin, Zhan, Qing-Yuan, Fu, Shuang-Lin, Zhao, Lin, Huang, Qi-Bing, Xie, Ying-Guang, Huang, Xiao-Bo, Zhang, Guo-Bin, Xu, Wang-Bin, Xu, Yuan, Liu, Ya-Ling, Zhao, He-Ling, Sun, Rong-Qing, Sun, Ming, Cheng, Qing-Hong, Qu, Xin, Yang, Xiao-Feng, Xu, Ming, Shi, Zhong-Hua, Chen, Han, He, Xuan, Yang, Yan-Lin, Chen, Guang-Qiang, Sun, Xiu-Mei, Zhou, Jian-Xin

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