Articles with "retinal visual" as a keyword



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Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia

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Published in 2022 at "Diagnostics"

DOI: 10.3390/diagnostics12123135

Abstract: Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein… read more here.

Keywords: retinal visual; involvement carriers; visual pathways; friedreich ataxia ... See more keywords