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Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, 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.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 7