Jingli Shan
Qilu Hospital of Shandong University(CN)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Muscle Physiology and Disorders, Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → 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
- → Congenital muscular dystrophies in China(2019)51 cited
- → ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme A Dehydrogenation Deficiency(2018)47 cited
- → Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation(2013)30 cited
- → Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report(2016)16 cited
- → Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population(2014)16 cited
- → Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy(2023)14 cited
- → Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation(2013)10 cited
- → Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration(2012)9 cited