Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease - Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Galassi Deforie, Valentina; Fernández-Eulate, Gorka; Traschütz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; et al. (Brain (London, England : 1878), 2024)
Keywords: Adolescent; Adult; Age of Onset; Child; Child, Preschool; Disease Progression; DNA Repeat Expansion - genetics; Female; Humans; Male; Middle Aged; Phenotype; Replication Protein C - genetics; Severity of Illness Index; Young Adult; neuropathy; southern blotting; repeat expansions; RFC1; ataxia; CANVAS