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

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

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

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

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

por 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
Publicado 2018

Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice

por Li, Jin-Jing, Lin, Xiang, Tang, Cheng, Lu, Ying-Qian, Hu, Xinde, Zuo, Erwei, Li, He, Ying, Wenqin, Sun, Yidi, Lai, Lu-Lu, Chen, Hai-Zhu, Guo, Xin-Xin, Zhang, Qi-Jie, Wu, Shuang, Zhou, Changyang, Shen, Xiaowen, Wang, Qifang, Lin, Min-Ting, Ma, Li-Xiang, Wang, Ning, Krainer, Adrian R, Shi, Linyu, Yang, Hui, Chen, Wan-Jin
Publicado 2020

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