Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File012-v2.xlsx › P_LP_VUS
Biallelic FDXR mutations induce ferroptosis in a rare mitochondrial disease with ataxia.
Wang J et al.
Free Radical Biology & Medicine, 2025
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.
Cao Y et al.
Orphanet Journal of Rare Diseases, 2025
Novel Variant of FDXR as a Molecular Etiology of Postlingual Post-synaptic Auditory Neuropathy Spectrum Disorder via Mitochondrial Dysfunction: Reiteration of the Correlation between Genotype and Cochlear Implantation Outcomes.
Kim BJ et al.
Clinical and Experimental Otorhinolaryngology, 2024
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E et al.
Jci Insight, 2024
38885337 (PubMed )
Supplement: jciinsight-9-179071-s025.pdf
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
37046037 (PubMed )
Supplement: 10072_2023_6790_MOESM1_ESM.xlsx › Foglio1
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
Searching for the Molecular Basis of Partial Deafness.
Oziębło D et al.
International Journal of Molecular Sciences, 2022
35682719 (PubMed )
Supplement: ijms-23-06029-s001.zip › TableS2.xlsx › Arkusz
Novel biallelic compound heterozygous mutations in FDXR cause optic atrophy in a young female patient: a case report.
Song SJ et al.
International Journal of Ophthalmology, 2021
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