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

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

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

por 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
Publicado 2022