Associated Papers
Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.
Haddad S et al.
Oxford Medical Case Reports, 2025
NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Mahesan A et al.
Pediatric Neurology, 2024
The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.
Becker N et al.
Acta Neuropathologica Communications, 2022
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Gschwind M et al.
Annals of Clinical and Translational Neurology, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V et al.
Genetics and Molecular Biology, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.
Wang X et al.
Scientific Reports, 2016
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K et al.
Mitochondrion, 2013
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.
Grönlund MA et al.
The British Journal of Ophthalmology, 2010
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