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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Jianwen Deng, Jiaxi Yu, Pidong Li et al. · The American Journal of Human Genetics · 2020 · 150 citations · Full text

Oculopharyngodistal Myopathy, Medicine, Genetics +6

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

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, Suqin Jin et al. · PLoS ONE · 2017 · 85 citations · Full text

Targeted Ngs, Rare Diseases, Mendelian Disorder +13

Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle

Yiming Zheng, Linlin Liu, Lu Wang et al. · Lara D. Veeken · 2014 · 83 citations

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL

Ziwen Wang, Yun Yuan, Wei Zhang et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 81 citations