Jingli Shan

The GGC repeat expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy type 3

Jiaxi Yu, Jianwen Deng, Xueyu Guo et al. · Brain · 2021 · 130 citations · Full text

Ggc Repeat Expansions, Signal Transduction, Opdm Type 3 +13

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

Jiaxi Yu, Jingli Shan, Meng Yu et al. · The American Journal of Human Genetics · 2022 · 77 citations · Full text

Cgg Repeat Expansion, Autoimmune Disease, Genetic Disorder +4

Congenital muscular dystrophies in China

Ge Lin, Cheng Zhang, Zhaoxia Wang et al. · Clinical Genetics · 2019 · 49 citations

<scp><i>ETFDH</i></scp> Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme <scp>A</scp> Dehydrogenation Deficiency

Jingwen Xu, Duoling Li, Jingwei Lv et al. · Annals of Neurology · 2018 · 47 citations

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation

Bing Wen, Duoling Li, Jingli Shan et al. · Molecular Genetics and Metabolism · 2013 · 30 citations

Secondary Mitochondrial Proliferation, Mitochondrial Function, Biochemistry +11