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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation
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
Published in Acta neuropathologica (01.06.2022)
Published in Acta neuropathologica (01.06.2022)
Get full text
Journal Article
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) (11.04.2024)
Published in Brain pathology (Zurich, Switzerland) (11.04.2024)
Get full text
Journal Article
Knockdown of myorg leads to brain calcification in zebrafish
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
Published in Molecular brain (23.07.2022)
Published in Molecular brain (23.07.2022)
Get full text
Journal Article
Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse
Jin, Ming, Lin, Jiajia, Li, Haisen, Li, Zhifang, Yang, Dong, Wang, Yin, Yu, Yuyang, Shao, Zhurui, Chen, Long, Wang, Zhiqiang, Zhang, Yu, Zhang, Xiumei, Wang, Ning, Xu, Chunlong, Yang, Hui, Chen, Wan-Jin, Li, Guoling
Published in Molecular therapy. Nucleic acids (11.06.2024)
Published in Molecular therapy. Nucleic acids (11.06.2024)
Get full text
Journal Article
Identification of SLC20A2 deletions in patients with primary familial brain calcification
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
Published in Clinical genetics (01.07.2019)
Published in Clinical genetics (01.07.2019)
Get full text
Journal Article
Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia
Li, Hong-Fu, Yang, Liqin, Yin, Dazhi, Chen, Wan-Jin, Liu, Gong-Lu, Ni, Wang, Wang, Ning, Yu, Wenwen, Wu, Zhi-Ying, Wang, Zheng
Published in Parkinsonism & related disorders (01.05.2019)
Published in Parkinsonism & related disorders (01.05.2019)
Get full text
Journal Article