Xinhui Chen

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

Zhidong Cen, You Chen, Si Chen et al. · Brain · 2019 · 91 citations · Full text

Developmental Biology, Mendelian Disorder, Jam2 Gene +15

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China

Si Chen, Zhidong Cen, Feng Fu et al. · Parkinsonism & Related Disorders · 2019 · 36 citations

Biallelic Variants, Genetic Disorder, Disease Prevalence +9

SLC7A11 is an unconventional H+ transporter in lysosomes

Nan Zhou, Jingzhi Chen, Meiqin Hu et al. · Cell · 2025 · 27 citations · Full text

Intronic (TTTGA)_n insertion in <i>SAMD12</i> also causes familial cortical myoclonic tremor with epilepsy

Zhidong Cen, You Chen, Dehao Yang et al. · Movement Disorders · 2019 · 26 citations

Altered Cerebello‐Motor Network in Familial Cortical Myoclonic Tremor With Epilepsy Type 1

Bo Wang, Jue Wang, Zhidong Cen et al. · Movement Disorders · 2020 · 24 citations

Neurogenomics, Motor Control Disorders, Neurological Disorder +27