Research progress of spinal muscular atrophy treatment in children

by Miao ZHAO, Ying-qian LU, Ning WANG, Wan-jin CHEN
Published 2018-04-01

Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2

by Yu Guo, Jiaqi Li, Wenyi Xie, Huaping Huang, Jin-Jing Li, Wanhui Lin, Ying-Qian Lu
Published 2024-02-01

Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis

by Ying-Qian Lu, Ying-Qian Lu, Jian-Min Chen, Han Lin, Shu-Yan Feng, Chun-Hui Che, Chun-Hui Che, Chang-Yun Liu, Chang-Yun Liu, Hua-Pin Huang, Hua-Pin Huang, Zhang-Yu Zou, Zhang-Yu Zou
Published 2022-02-01

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

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

by En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang, Wan-Jin Chen, Xiang Lin
Published 2018-07-01

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