Associated Papers
Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.
Tafakhori A et al.
Bmc Neurology, 2026
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
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
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 Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S et al.
Genes, 2023
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton SL et al.
Human Mutation, 2021
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
Slone J et al.
Journal of Human Genetics, 2018
Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.
Zamò A et al.
Leukemia, 2018
28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b
Myosin transducer mutations differentially affect motor function, myofibril structure, and the performance of skeletal and cardiac muscles.
Cammarato A et al.
Molecular Biology of the Cell, 2008
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