Associated Papers
Screening strategy using a filamentous fungus model to repurpose drugs for mitochondrial complex I deficiencies.
Sellem CH et al.
Life Sciences, 2026
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
NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency.
Mittal P et al.
Bmj Case Reports, 2025
Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.
Epifane-de-Assunção MC et al.
Molecular Neurobiology, 2025
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
Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Arun AS et al.
The Pharmacogenomics Journal, 2025
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies.
Gupta N et al.
Indian Journal of Pediatrics, 2025
Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.
Aguilar K et al.
European Journal of Clinical Investigation, 2024
NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Mahesan A et al.
Pediatric Neurology, 2024
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S et al.
Brain & Development, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.
Chermakani P et al.
Excli Journal, 2023
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V et al.
Genetics and Molecular Biology, 2021
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.
Borna NN et al.
Genes, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B et al.
Journal of Child Neurology, 2020
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
Cystic Leucoencephalopathy in NDUFV1 Mutation.
Wadhwa Y et al.
Indian Journal of Pediatrics, 2018
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A et al.
European Journal of Human Genetics : Ejhg, 2018
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
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
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Lopes Costa A et al.
Human Molecular Genetics, 2014
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Ortega-Recalde O et al.
Mitochondrion, 2013
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Dinwiddie DL et al.
Genomics, 2013
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
Marin SE et al.
Gene, 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
Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience.
Cornelius LP et al.
Annals of Indian Academy of Neurology, 0