Associated Papers
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A et al.
Brain : a Journal of Neurology, 2025
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.
Arlt A et al.
Journal of Neurogenetics, 2024
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N et al.
European Journal of Neurology, 2023
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Walker MA et al.
Journal of Child Neurology, 2016
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