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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
Yao, Xiang-Ping, Cheng, Xuewen, Wang, Chong, Zhao, Miao, Guo, Xin-Xin, Su, Hui-Zhen, Lai, Lu-Lu, Zou, Xiao-Huan, Chen, Xue-Jiao, Zhao, Yuying, Dong, En-Lin, Lu, Ying-Qian, Wu, Shuang, Li, Xiaojuan, Fan, Gaofeng, Yu, Hongjie, Xu, Jianfeng, Wang, Ning, Xiong, Zhi-Qi, Chen, Wan-Jin
Published in Neuron (Cambridge, Mass.) (27.06.2018)
Published in Neuron (Cambridge, Mass.) (27.06.2018)
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Genotype-Phenotype Correlation of ETF Dehydrogenase Gene-Related Multiple Acyl-CoA Dehydrogenation Deficiency in Chinese Patients
Liang, Hui, Ye, Ziling, Yang, Lin, Liu, Yue, Lin, Minting, Wang, Zhiqiang, Liu, Xinyi, Chen, Wan-Jin, Yang, Kang
Published in The FASEB journal (31.08.2025)
Published in The FASEB journal (31.08.2025)
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Reply to “SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction”
He, Jin, Liu, Xiao‐Xuan, Fan, Dong‐Sheng, Chen, Wan‐Jin
Published in Annals of neurology (01.12.2023)
Published in Annals of neurology (01.12.2023)
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Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency
Li, Yun‐Lu, Lin, Jingjing, Huang, Xuejing, Zeng, Rui‐Huang, Zhang, Guangyu, Xu, Jie‐Ni, Lin, Kai‐Jun, Chen, Xin‐Shuo, He, Ming‐Feng, Qiao, Jing‐Da, Cheng, Xuewen, Zhu, Dengna, Xiong, Zhi‐Qi, Chen, Wan‐Jin
Published in Annals of neurology (01.10.2024)
Published in Annals of neurology (01.10.2024)
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Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model
Lin, Jiajia, Jin, Ming, Yang, Dong, Li, Zhifang, Zhang, Yu, Xiao, Qingquan, Wang, Yin, Yu, Yuyang, Zhang, Xiumei, Shao, Zhurui, Shi, Linyu, Zhang, Shu, Chen, Wan-jin, Wang, Ning, Wu, Shiwen, Yang, Hui, Xu, Chunlong, Li, Guoling
Published in Nature communications (15.07.2024)
Published in Nature communications (15.07.2024)
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Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations
Lin, Jie, Zheng, Yexiang, Liu, Ying, Lin, Yi, Wang, Qiqi, Lin, Xiao‐Hong, Zhu, Wenli, Lin, Wei‐Hong, Wang, Ning, Chen, Wan‐Jin, Fu, Ying
Published in Movement disorders (01.06.2021)
Published in Movement disorders (01.06.2021)
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GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy
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
Published in Annals of neurology (01.09.2022)
Published in Annals of neurology (01.09.2022)
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Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia
Chen, Yi‐Jun, Wang, Meng‐Wen, Qiu, Yu‐Sen, Yuan, Ru‐Ying, Wang, Ning, Lin, Xiang, Chen, Wan‐Jin
Published in Movement disorders (01.09.2023)
Published in Movement disorders (01.09.2023)
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Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
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
Published in Movement disorders (01.03.2022)
Published in Movement disorders (01.03.2022)
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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
Published in Annals of neurology (01.02.2023)
Published in Annals of neurology (01.02.2023)
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Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
Dong, En-Lin, Wang, Chong, Wu, Shuang, Lu, Ying-Qian, Lin, Xiao-Hong, Su, Hui-Zhen, Zhao, Miao, He, Jin, Ma, Li-Xiang, Wang, Ning, Chen, Wan-Jin, Lin, Xiang
Published in Molecular neurodegeneration (06.07.2018)
Published in Molecular neurodegeneration (06.07.2018)
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Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
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
Published in Movement disorders (01.01.2024)
Published in Movement disorders (01.01.2024)
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Base editing-mediated splicing correction therapy for spinal muscular atrophy
Lin, Xiang, Chen, Haizhu, Lu, Ying-Qian, Hong, Shunyan, Hu, Xinde, Gao, Yanxia, Lai, Lu-Lu, Li, Jin-Jing, Wang, Zishuai, Ying, Wenqin, Ma, Lixiang, Wang, Ning, Zuo, Erwei, Yang, Hui, Chen, Wan-Jin
Published in Cell research (01.06.2020)
Published in Cell research (01.06.2020)
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Detection of pTDP‐43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis
Zhang, Qi‐Jie, Lin, Jie, Wang, You‐Liang, Chen, Long, Ding, Ying, Zheng, Fu‐Ze, Song, Huan‐Huan, Lv, Ao‐Wei, Li, Yu‐Ying, Guo, Qi‐Fu, Lin, Min‐Ting, Hu, Wei, Xu, Liu‐Qing, Zhao, Wen‐Long, Fang, Ling, Cui, Meng‐Chao, Fu, Zhi‐Fei, Chen, Wan‐Jin, Zhang, Jing, Wang, Zhi‐Qiang, Wang, Ning, Fu, Ying
Published in Brain pathology (Zurich, Switzerland) (01.11.2024)
Published in Brain pathology (Zurich, Switzerland) (01.11.2024)
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Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification
Guo, Xin‐Xin, Zou, Xiao‐Huan, Wang, Chong, Yao, Xiang‐Ping, Su, Hui‐Zhen, Lai, Lu‐Lu, Chen, Hai‐Ting, Lai, Jing‐Hui, Liu, Yao‐Bin, Chen, Dong‐Ping, Deng, Yu‐Chun, Lin, Pan, Lin, Hua‐Song, Hong, Bing‐Cong, Yao, Qing‐Yang, Chen, Xue‐Jiao, Huang, Dan‐Qin, Fu, Hong‐Xia, Peng, Ji‐Dong, Niu, Yan‐Fang, Zhao, Yu‐Ying, Zhu, Xiao‐Qun, Lu, Xiao‐Pei, Lin, Hai‐Liang, Li, Yong‐Kun, Liu, Chang‐Yun, Huang, Gen‐Bin, Wang, Ning, Chen, Wan‐Jin
Published in Human mutation (01.04.2019)
Published in Human mutation (01.04.2019)
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Potential markers for sample size estimations in hereditary spastic paraplegia type 5
Lin, Qianqian, Liu, Ying, Ye, Zhixian, Hu, Jianping, Cai, Wenjie, Weng, Qiang, Chen, Wan-Jin, Wang, Ning, Cao, Dairong, Lin, Yi, Fu, Ying
Published in Orphanet journal of rare diseases (19.09.2021)
Published in Orphanet journal of rare diseases (19.09.2021)
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Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
Dong, Sen‐Wei, Xiao, Li‐Mei, Sun, Yu‐Hao, Li, Gui‐He, Xie, Ying‐Xuan, Wang, Meng‐Wen, Wang, Ning, Chen, Wan‐Jin, Chen, Hai‐Zhu
Published in Clinical genetics (10.04.2025)
Published in Clinical genetics (10.04.2025)
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Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia
Lin, Xiang, Su, Hui-Zhen, Dong, En-Lin, Lin, Xiao-Hong, Zhao, Miao, Yang, Can, Wang, Chong, Wang, Jie, Chen, Yi-Jun, Yu, Hongjie, Xu, Jianfeng, Ma, Li-Xiang, Xiong, Zhi-Qi, Wang, Ning, Chen, Wan-Jin
Published in Brain (London, England : 1878) (01.08.2019)
Published in Brain (London, England : 1878) (01.08.2019)
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Advances in gene therapy for neurogenetic diseases: a brief review
Xie, Ying-Xuan, Lv, Wen-Qi, Chen, Yi-Kun, Hong, Shunyan, Yao, Xiang-Ping, Chen, Wan-Jin, Zhao, Miao
Published in Journal of molecular medicine (Berlin, Germany) (01.03.2022)
Published in Journal of molecular medicine (Berlin, Germany) (01.03.2022)
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Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3
Chen, Zhi‐li, Xiao, Li‐mei, Li, Chun, Qiu, Liang‐liang, Lin, Wei, Ye, Zhi‐xian, Zhang, Yuan‐yuan, Zhu, Zhi‐bao, Li, Meng‐cheng, Lin, Min‐ting, Chen, Wan‐jin, Wang, Ning, Fu, Ying, Gan, Shi‐rui
Published in European journal of neurology (01.04.2025)
Published in European journal of neurology (01.04.2025)
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