Associated Papers
Screening strategy using a filamentous fungus model to repurpose drugs for mitochondrial complex I deficiencies.
Sellem CH et al.
Life Sciences, 2026
Progressive spinal cord involvement in Leigh syndrome due to an NDUFV1 variant.
Finsterer J
Radiology Case Reports, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.
Finsterer J
Cureus, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.
Aguilar K et al.
European Journal of Clinical Investigation, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
[A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy].
Zhang Z et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V et al.
Genetics and Molecular Biology, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
Nafisinia M et al.
Jimd Reports, 2017
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
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Amiel J et al.
Prenatal Diagnosis, 2001
The transmission of OXPHOS disease and methods to prevent this.
Jacobs LJ et al.
Human Reproduction Update, 0