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

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

Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study

por Qiu, Yu-Sen, Zeng, Yi-Heng, Yuan, Ru-Ying, Ye, Zhi-Xian, Bi, Jin, Lin, Xiao-Hong, Chen, Yi-Jun, Wang, Meng-Wen, Liu, Ying, Yao, Shao-Bo, Chen, Yi-Kun, Jiang, Jun-Yi, Lin, Yi, Lin, Xiang, Wang, Ning, Fu, Ying, Chen, Wan-Jin
Publicado 2022