Lu‐Lu Lai

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

Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice

Jin-Jing Li, Xiang Lin, Cheng Tang et al. · National Science Review · 2019 · 29 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Identification of <i>SLC20A2</i> deletions in patients with primary familial brain calcification

Hui‐Zhen Su, Xiaohuan Zou, Lu‐Lu Lai et al. · Clinical Genetics · 2019 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17