A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

by Li-Xi Li, Hai-Lin Dong, Bao-Guo Xiao, Zhi-Ying Wu
Published 2017-01-01

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

by Hai-Lin Dong, Jia-Qi Li, Gong-Lu Liu, Hao Yu, Zhi-Ying Wu
Published 2021-01-01

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

by Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu
Published 2019-12-01

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

by Wen‐Jiao Luo, Qiao Wei, Hai‐Lin Dong, Yang‐Tian Yan, Mei‐Jiao Chen, Hong‐Fu Li
Published 2020-01-01

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

by Qiao Wei, Hai-Lin Dong, Li-Ying Pan, Cong-Xin Chen, Yang-Tian Yan, Rou-Min Wang, Hong-Fu Li, Zhi-Jun Liu, Qing-Qing Tao, Zhi-Ying Wu
Published 2019-06-01