Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mu...

by Ying-qian Lu, En-lin Dong, Wei-qi Yang, Lu-lu Lai, Xiao-hong Lin, Li-xiang Ma, Wan-jin Chen, Ning Wang, Xiang Lin
Published 2019-01-01

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

by Lu‐Lu Lai, Yi‐Jun Chen, Yun‐Lu Li, Xiao‐Hong Lin, Meng‐Wen Wang, En‐Lin Dong, Ning Wang, Wan‐Jin Chen, Xiang Lin
Published 2020-10-01

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

by Yi-Heng Zeng, Bi-Wei Lin, Hui-Zhen Su, Xin-Xin Guo, Yun-Lu Li, Lu-Lu Lai, Wan-Jin Chen, Miao Zhao, Xiang-Ping Yao
Published 2021-10-01

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

by Liu-Qing Xu, Wei Hu, Qi-Fu Guo, Lu-Lu Lai, Guo-Rong Xu, Wan-Jin Chen, Wan-Jin Chen, Ning Wang, Ning Wang, Qi-Jie Zhang, Qi-Jie Zhang
Published 2020-10-01

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

by Miao Zhao, Hui-Zhen Su, Yi-Heng Zeng, Yuan Sun, Xin-Xin Guo, Yun-Lu Li, Chong Wang, Zhi-Yuan Zhao, Xue-Jing Huang, Kai-Jun Lin, Zi-Ling Ye, Bi-Wei Lin, Shunyan Hong, Jitan Zheng, Yao-Bin Liu, Xiang-Ping Yao, Dehao Yang, Ying-Qian Lu, Hai-Zhu Chen, Erwei Zuo, Guang Yang, Hong-Tao Wang, Chen-Wei Huang, Xiao-Hong Lin, Zhidong Cen, Lu-Lu Lai, Yan-Ke Zhang, Xi Li, Tianmin Lai, Jingjing Lin, Dan-Dan Zuo, Min-Ting Lin, Chia-Wei Liou, Qing-Xia Kong, Chuan-Zhu Yan, Zhi-Qi Xiong, Ning Wang, Wei Luo, Cui-Ping Zhao, Xuewen Cheng, Wan-Jin Chen
Published 2022-11-01