Article
Auditory Phenotypic Variability in Friedreich's Ataxia Patients.
Cerebellum (London, England) - 1 Aug 2021
Koohi Nehzat, Thomas-Black Gilbert, Giunti Paola, Bamiou Doris-Eva
Abstract excerpt
Auditory neural impairment is a key clinical feature of Friedreich's Ataxia (FRDA). We aimed to characterize the phenotypical spectrum of the auditory impairment in FRDA in order to facilitate early identification and timely management of auditory impairment in FRDA patients and to explore the relationship between the severity of auditory impairment with genetic variables (the expansion size of GAA trinucleotide...
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