Ruxu Zhang

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Yun Tian, Junling Wang, Wen Huang et al. · The American Journal of Human Genetics · 2019 · 323 citations · Full text

Life Sciences, Genetics, Neurology +17

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +11

A <i>SIGMAR1</i> splice-site mutation causes distal hereditary motor neuropathy

Xiaobo Li, Zhengmao Hu, Lei Liu et al. · Neurology · 2015 · 79 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation Analysis of the Small Heat Shock Protein 27 Gene in Chinese Patients With Charcot-Marie-Tooth Disease

Beisha Tang, Xiaomin Liu, Guohua Zhao et al. · Archives of Neurology · 2005 · 72 citations

Life Sciences, Genetics, Molecular Genetics +17

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

Xiao‐Jun Huang, Shi‐Ge Wang, Xia‐Nan Guo et al. · Movement Disorders · 2020 · 42 citations

Life Sciences, Genetics, Neurology +8