Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome

por Zeng, Yi-Heng, Zhao, Miao, Guo, Xin-Xin, Wang, Ning, Chen, Wan-Jin
Publicado 2022

Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review

por Zhang, Qi-Jie, Xu, Liu-Qing, Wang, Chong, Hu, Wei, Wang, Ning, Chen, Wan-Jin
Publicado 2016

Rethinking monogenic neurological diseases

por Chen, Wan-Jin, Cheng, Xuewen, Fu, Ying, Zhao, Miao, McGinley, Jennifer, Westenberger, Ana, Xiong, Zhi-Qi
Publicado 2020

Rapid diagnosis of spinal muscular atrophy using High-Resolution Melting Analysis

por Chen, Wan Jin, Dong, Wan Juan, Lin, Xiao Zhen, Lin, Min Ting, Murong, Shen Xing, Wu, Zhi Ying, Wang, Ning
Publicado 2009

Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese

por Chen, Ya-Fang, Chen, Wan-Jin, Lin, Xiao-Zhen, Zhang, Qi-Jie, Cai, Jiang-Ping, Liou, Chia-Wei, Wang, Ning
Publicado 2015

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

por He, Jin, Lin, Han, Li, Jin-Jing, Su, Hui-Zhen, Wang, Dan-Ni, Lin, Yu, Wang, Ning, Chen, Wan-Jin
Publicado 2018

The Pathology of Primary Familial Brain Calcification: Implications for Treatment

por Xu, Xuan, Sun, Hao, Luo, Junyu, Cheng, Xuewen, Lv, Wenqi, Luo, Wei, Chen, Wan-Jin, Xiong, Zhi-Qi, Liu, Jing-Yu
Publicado 2022

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymera...

por Hong, Jing-Mei, Zhao, Miao, He, Jin, Huang, Xue-Jing, Zhao, Zhi-Yuan, Chen, Wan-Jin, Wang, Ning, Li, Jin-Jing
Publicado 2020

Median Nerve-Neurophysiological Index Correlates With the Survival of Patients With Amyotrophic Lateral Sclerosis

por Xu, Liu-Qing, Hu, Wei, Guo, Qi-Fu, Lai, Lu-Lu, Xu, Guo-Rong, Chen, Wan-Jin, Wang, Ning, Zhang, Qi-Jie
Publicado 2020

Potential markers for sample size estimations in hereditary spastic paraplegia type 5

por Lin, Qianqian, Liu, Ying, Ye, Zhixian, Hu, Jianping, Cai, Wenjie, Weng, Qiang, Chen, Wan-Jin, Wang, Ning, Cao, Dairong, Lin, Yi, Fu, Ying
Publicado 2021

Correction to: Potential markers for sample size estimations in hereditary spastic paraplegia type 5

por Lin, Qianqian, Liu, Ying, Ye, Zhixian, Hu, Jianping, Cai, Wenjie, Weng, Qiang, Chen, Wan-Jin, Wang, Ning, Cao, Dairong, Lin, Yi, Fu, Ying
Publicado 2021

High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis

por Xu, Guo-rong, Hu, Wei, Zhan, Ling-Ling, Wang, Chong, Xu, Liu-Qing, Lin, Min-Ting, Chen, Wan-Jin, Wang, Ning, Zhang, Qi-Jie
Publicado 2018

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia

por Lai, Lu‐Lu, Chen, Yi‐Jun, Li, Yun‐Lu, Lin, Xiao‐Hong, Wang, Meng‐Wen, Dong, En‐Lin, Wang, Ning, Chen, Wan‐Jin, Lin, Xiang
Publicado 2020

Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations

por 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
Publicado 2021

Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons

por Zhang, Qi-Jie, Li, Jin-Jing, Lin, Xiang, Lu, Ying-Qian, Guo, Xin-Xin, Dong, En-Lin, Zhao, Miao, He, Jin, Wang, Ning, Chen, Wan-Jin
Publicado 2017

Application of urine cells in drug intervention for spinal muscular atrophy

por Zhang, Qi-Jie, Lin, Xiang, Li, Jin-Jing, Lu, Ying-Qian, Guo, Xin-Xin, Dong, En-Lin, Zhao, Miao, He, Jin, Wang, Ning, Chen, Wan-Jin
Publicado 2017

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

por 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
Publicado 2021

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

por Dong, Yi, Ni, Wang, Chen, Wan-Jin, Wan, Bo, Zhao, Gui-Xian, Shi, Zhu-Qing, Zhang, Yue, Wang, Ning, Yu, Long, Xu, Jian-Feng, Wu, Zhi-Ying
Publicado 2016

Knockdown of myorg leads to brain calcification in zebrafish

por 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
Publicado 2022

Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells

por Lin, Xiang, Li, Jin-Jing, Qian, Wen-Jing, Zhang, Qi-Jie, Wang, Zhong-Feng, Lu, Ying-Qian, Dong, En-Lin, He, Jin, Wang, Ning, Ma, Li-Xiang, Chen, Wan-Jin
Publicado 2017