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

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

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

por Chen, Yi-Jun, Zhang, Zai-Qiang, Wang, Meng-Wen, Qiu, Yu-Sen, Yuan, Ru-Ying, Dong, En-Lin, Zhao, Zhe, Zhou, Hai-Tao, Wang, Ning, Chen, Wan-Jin, Lin, Xiang
Publicado 2021