Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Author: Curro, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Deforie, Valentina Galassi; Fernandez-Eulate, Gorka; Traschuetz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H.; Schnekenberg, Ricardo Parolin; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; de Munain, Adolfo Lopez; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinead M.; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakkes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M.; Houlden, Henry; Cortese, Andrea
Tübinger Autor(en):
Traschütz, Andreas
Synofzik, Matthis
Published in: Brain (2024), Bd. 147, H. 5, S. 1887-1898
Verlagsangabe: Oxford : Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awad436
ISSN: 0006-8950
DDC Classifikation: 610 - Medicine and health
570 - Life sciences; biology
Dokumentart: Article
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