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

por Li, Li-Xi, Dong, Hai-Lin, Xiao, Bao-Guo, Wu, Zhi-Ying
Publicado 2017

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

por Dong, Hai-Lin, Li, Jia-Qi, Liu, Gong-Lu, Yu, Hao, Wu, Zhi-Ying
Publicado 2021

A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores

por Chen, Lei, Chen, Dian‐Fu, Dong, Hai‐Lin, Liu, Gong‐Lu, Wu, Zhi‐Ying
Publicado 2021

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome

por Xue, Yan‐Yan, Huang, Xue‐Rong, Dong, Hai‐Lin, Wu, Zhi‐Ying, Li, Hong‐Fu
Publicado 2021

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

por Tao, Qing-Qing, Zhang, Yun, Lin, Hui-Xia, Dong, Hai-Lin, Ni, Wang, Wu, Zhi-Ying
Publicado 2019

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

por Luo, Wen‐Jiao, Wei, Qiao, Dong, Hai‐Lin, Yan, Yang‐Tian, Chen, Mei‐Jiao, Li, Hong‐Fu
Publicado 2019

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie–Tooth disease

por Chen, Cong‐Xin, Li, Jia‐Qi, Dong, Hai‐Lin, Liu, Gong‐Lu, Bai, Ge, Wu, Zhi‐Ying
Publicado 2020

A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

por Wei, Qiao, Wang, Pei‐Shan, Dong, Hai‐Lin, Luo, Wen‐Jiao, Wu, Zhi‐Ying, Li, Hong‐Fu
Publicado 2022

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

por Cheng, Hao-Ling, Shao, Ya-Ru, Dong, Yi, Dong, Hai-Lin, Yang, Lu, Ma, Yin, Shen, Ying, Wu, Zhi-Ying
Publicado 2021

A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

por Xue, Yan-Yan, Cheng, Hao-Ling, Dong, Hai-Lin, Yin, Hou-Min, Yuan, Yun, Meng, Ling-Chao, Wu, Zhi-Ying, Yu, Hao
Publicado 2021

Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

por Chen, Mei-Jiao, Zhang, Yi, Luo, Wen-Jiao, Dong, Hai-Lin, Wei, Qiao, Zhang, Juan, Ruan, Qi-Qi, Ni, Wang, Li, Hong-Fu
Publicado 2022

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders

por Zhao, Shao‐Yun, Li, Li‐Xi, Chen, Yu‐Lan, Chen, Yi‐Jun, Liu, Gong‐Lu, Dong, Hai‐Lin, Chen, Dian‐Fu, Li, Hong‐Fu, Wu, Zhi‐Ying
Publicado 2019

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

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