Takanori Onuki
Niigata University Medical and Dental Hospital(JP)Chiba Hospital(JP)Niigata University(JP)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, ATP Synthase and ATPases Research, Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, RNA modifications and cancer
Most-Cited Works
- → Abnormal pupillary light reflex with chromatic pupillometry in G aucher disease(2014)19 cited
- → Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease(2023)11 cited
- → Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A(2021)9 cited
- → Strategic validation of variants of uncertain significance in ECHS1 genetic testing(2023)6 cited
- → Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement(2021)4 cited
- → Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder(2023)3 cited
- → Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease(2022)3 cited
- → Atypical case of neonatal-onset Gaucher disease type 3b: A case report(2025)2 cited
- → A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns(2023)2 cited
- → Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly(2025)1 cited