Associated Papers
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Fiorini C et al.
Brain : a Journal of Neurology, 2025
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C et al.
Molecular Genetics and Metabolism Reports, 2023
NDUFA1 p.Gly32Arg variant in early-onset dementia.
Huttula S et al.
Neurobiology of Aging, 2022
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
Miyauchi A et al.
Brain & Development, 2018
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
Kim C et al.
Neurochemistry International, 2017
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Uehara N et al.
Annals of Clinical and Translational Neurology, 2014
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