Hui‐Zhen Su

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Xiang‐Ping Yao, Xuewen Cheng, Chong Wang et al. · Neuron · 2018 · 156 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

Miao Zhao, Hui‐Zhen Su, Yi‐Heng Zeng et al. · Cell Discovery · 2022 · 57 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +15

Spectrum of <i>SLC20A2</i> , <i>PDGFRB</i> , <i>PDGFB</i> , and <i>XPR1</i> mutations in a large cohort of patients with primary familial brain calcification

Xiaohuan Zou, Chong Wang, Xiang‐Ping Yao et al. · Human Mutation · 2019 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

Xiang Lin, Hui‐Zhen Su, En‐Lin Dong et al. · Brain · 2019 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification

Xiang‐Ping Yao, Miao Zhao, Chong Wang et al. · Cell and Tissue Research · 2017 · 31 citations

Life Sciences, Genetics, Molecular Genetics +9