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Role of the Repeat Expansion Size in Predicting Age of Onset and Severity in RFC1 Disease

Riccardo Curro,Natalia Dominik,Stefano Facchini,Elisa Vegezzi,Roisin Sullivan,Valentina Galassi Deforie,Gorka Fernandez-Eulate,Andreas Traschuetz,Salvatore Rossi,Matteo Garibaldi,Mariusz Kwarciany,Franco Taroni,Alfredo Brusco,Jean-Marc Good,Francesca Cavalcanti,Simon Hammans,Gianina Ravenscroft,Richard H. Roxburgh,Ricardo Parolin Schnekenberg,Bianca Rugginini,Elena Abati,Arianna Manini,Ilaria Quartesan, Arianna Ghia,Adolfo Lopez de Munain,Fiore Manganelli,Marina Kennerson,Filippo Maria Santorelli,Jon Infante,Wilson Marques,Manu Jokela,Sinead M. Murphy,Paola Mandich,Gian Maria Fabrizi,Chiara Briani,David Gosal,Davide Pareyson, Alberto Ferrari,Ferran Prados,Tarek Yousry,Vikram Khurana,Sheng-Han Kuo,James Miller,Claire Troakkes,Zane Jaunmuktane,Paola Giunti,Annette Hartmann,Nazli Basak,Matthis Synofzik,Tanya Stojkovic,Marios Hadjivassiliou,Mary M. Reilly,Henry Houlden,Andrea Cortese

BRAIN（2024）

Cited 8|Views72
Key words
CANVAS,RFC1,ataxia,neuropathy,repeat expansions,southern blotting
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