Jiaxi Yu
Peking University(CN)Peking University First Hospital(CN)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, Genetics and Neurodevelopmental Disorders, Amyotrophic Lateral Sclerosis Research
Most-Cited Works
- → Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy(2020)152 cited
- → Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease(2019)139 cited
- → The GGC repeat expansion inNOTCH2NLCis associated with oculopharyngodistal myopathy type 3(2021)134 cited
- → The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4(2022)80 cited
- → Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease(2021)58 cited
- → CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model(2022)48 cited
- → The polyG diseases: a new disease entity(2022)37 cited
- → GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy(2021)29 cited
- → GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy(2021)22 cited
- → Oculopharyngodistal myopathy(2022)21 cited