Associated Papers
Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum.
Bucknor EMV et al.
Antioxidants (basel, Switzerland), 2024
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.
Li Y et al.
Human Molecular Genetics, 2023
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Wang J et al.
American Journal of Human Genetics, 2019
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