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
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
Abu Hanna F et al.
Orphanet Journal of Rare Diseases, 2024
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
Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal.
Subrahmanian N et al.
Brain Research, 2021
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
Molecular base of biochemical complex I deficiency.
Hoefs SJ et al.
Mitochondrion, 2012
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 2012
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
Pagniez-Mammeri H et al.
Molecular Genetics and Metabolism, 2012
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Nouws J et al.
Brain : a Journal of Neurology, 2012
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
Hoefs SJ et al.
Human Mutation, 2009
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