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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. (2025)

First Author: Cortese A

Attributed to: The AAGGG repeat expansion in RFC1 associated with late-onset ataxia and sensory neuropathy: from genetic cause to defining the functional mechanism funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awaf021

PubMed Identifier: 39938083

Publication URI: http://europepmc.org/abstract/MED/39938083

Type: Journal Article/Review

Parent Publication: Brain : a journal of neurology

ISSN: 0006-8950