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REPEAT EXPANSION SIZE PREDICTS AGE OF ONSET IN RFC1 CANVAS AND DISEASE SPECTRUM

Riccardo Curro,Natalia Dominik,Riccardo Ronco,Elisa Vegezzi,Sara Nagy,Arianna Tucci,Tim Lavin,Aleksandar Radunovic,Simon Hammans,Mariusz Kwarciany,Silvia Colnaghi,Maurizio Versino,Filippo Santorelli,Alexandra Durr,Wilson Marques,Sinead Murphy,Rita Horvath,Patrick Chinnery,Charlotte Sumner,Lea Leonardis,Marina Grandis,Emilia Bellone,Pegoraro Elena,Gabriella Silvestri,James Miller,Grazia Devigili,Giuseppe Lauria Pinter,Davide Pareyson,Franco Taroni,Andrew Schaefer,Alfredo Brusco,Lucio Santoro,Fiore Manganelli,Cristina Tassorelli,Angelo Schenone,Paola Mandich,Manu Jokela,Jon Infante,Marina Kennerson,Gianina Ravenscroft,Nigel Laing,Richard Roxburgh,Gian Maria Fabrizi,Chiara Briani,Paola Giunti,Stephan Zuchner,A. Nazli Basak,Michael Strupp,Annette Hartmann,Matthis Synofzik,Marios Hadjivassiliou,Tanya Stojkovic,Mary Reilly,Henry Houlden,Andrea Cortese

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2022）

Cited 1|Views48
Key words
repeat expansion disorders, RFC1, CANVAS, meiotic instability, southern blot
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