Associated Papers
A molecular basis of Ferredoxin Reductase (FdxR) mutations that result in mitochondriopathies.
Kumar A et al.
Journal of Inorganic Biochemistry, 2025
Ocular and neurological manifestations of the FDXR-related disorder.
Kaler A et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E et al.
Jci Insight, 2024
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.
Delibes C et al.
Journal of Translational Medicine, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Campbell T et al.
Genetics in Medicine Open, 2024
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Masnada S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
Wei X et al.
Experimental Eye Research, 2023
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S et al.
Genes, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton SL et al.
Human Mutation, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A et al.
American Journal of Human Genetics, 2017
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Stekrová J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004