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Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.NPJ Digital Medicine|June 4, 2026
ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world casesAlberto De Lorenzo, Giulia Sofia Moretti, Alessandro Bertini, et al.European Journal of Neurology|June 2, 2026
Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly)Marco Ceccanti, Pietro Guaraldi, Angela Romano, et al.Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.Pageof 9