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Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Malaquias MJ, Braz L, Santos Silva C, Damásio J, Jorge A, Lemos JM, Campos CF, Garcez D, Oliveira Santos M, Velon AG, Caetano A, Calejo M, Fernandes P, Rego Â, Castro S, Sousa AP, Cardoso MN, Fernandes M, Pinto MM, Taipa R, Lopes AM, Oliveira J, Magalhães M; for RFC1 Repeat Expansion National Study Group. Malaquias MJ, et al. Among authors: cardoso mn. Neurol Clin Pract. 2023 Oct;13(5):e200190. doi: 10.1212/CPJ.0000000000200190. Epub 2023 Sep 5. Neurol Clin Pract. 2023. PMID: 37674869