Associated Papers
Screening strategy using a filamentous fungus model to repurpose drugs for mitochondrial complex I deficiencies.
Sellem CH et al.
Life Sciences, 2026
Identifying inherited metabolic disorders in children: the role of elevated creatine kinase.
Yoldaş Çelik M et al.
Bmc Pediatrics, 2025
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S et al.
Brain & Development, 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
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V et al.
Genetics and Molecular Biology, 2021
Cystic Leucoencephalopathy in NDUFV1 Mutation.
Wadhwa Y et al.
Indian Journal of Pediatrics, 2018
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
Varghese F et al.
Human Molecular Genetics, 2015
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Dinwiddie DL et al.
Genomics, 2013
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
Vilain C et al.
Clinical Genetics, 2012
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
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Invernizzi F et al.
Mitochondrion, 2012
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Willis JH et al.
Biochimica Et Biophysica Acta, 2009
Clinical and molecular findings in children with complex I deficiency.
Bugiani M et al.
Biochimica Et Biophysica Acta, 2004
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.
Nobuhara Y et al.
Neurology, 2004
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis.
Grad LI et al.
Human Molecular Genetics, 2004
Respiratory chain complex I deficiency.
Triepels RH et al.
American Journal of Medical Genetics, 2001
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL et al.
Human Mutation, 2000
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Schuelke M et al.
Nature Genetics, 1999