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

Title:	Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Authors:	Riccardo Currò; Natalia Dominik; Stefano Facchini; Elisa Vegezzi; Roisin Sullivan; Valentina Galassi Deforie; Gorka Fernández-Eulate; Andreas Traschütz; 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 Lòpez de Munaìn; Fiore Manganelli; Marina Kennerson; Filippo Maria Santorelli; Jon Infante; Manu Jokela; Sinéad 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 Troakes; Zane Jaunmuktane; Paola Giunti; Annette Hartmann; Nazli Basak; Matthis Synofzik; Tanya Stojkovic; Marios Hadjivassiliou; Mary M. Reilly; Henry Houlden; Andrea Cortese; Inés Albájar; Catherine Ashton; Nick Beauchamp; Sarah J Beecroft; Emilia Bellone; Josè Berciano; Petya Bogdanova-Mihaylova; Barbara Borroni; Bernard Brais; Enrico Bugiardini; Catarina Campos; Aisling Carr; Liam Carroll; Francesca Castellani; Tiziana Cavallaro; Patrick F. Chinnery; Silvia Colnaghi; Giuseppe Cosentino; Joana Damasio; Soma Das; Grazia Devigili; Daniela Di Bella; David Dick; Alexandra Durr; Amar El-Saddig; Jennifer Faber; Moreno Ferrarini; Massimiliano Filosto; Geraint Fuller; Salvatore Gallone; Chiara Gemelli; Marina Grandis; John Hardy; Channa Hewamadduma; Rita Horvath; Vincent Huin; Daniele Imperiale; Pablo Iruzubieta; Diego Kaski; Andrew King; Thomas Klockgether; Müge Koç; Kishore R. Kumar; Thierry Kuntzer; Nigel Laing; Matilde Laurà; Timothy Lavin; Peter Nigel Leigh; Lea Leonardis; Michael P. Lunn; Stefania Magri; Francesca Magrinelli; Maria João Malaquias; Michelangelo Mancuso; Hadi Manji; Sara Massucco; John McConville; Renato P. Munhoz; Sara Nagy; Alain Ndayisaba; Andrea Hilary Nemeth; Luiz Eduardo Novis; Johanna Palmio; Elena Pegoraro; David Pellerin; Benedetta Perrone; Chiara Pisciotta; James Polke; Malcolm Proudfoot; Laura Orsi; Aleksandar Radunovic; Nilo Riva; Aiko Robert; Riccardo Ronco; Elena Rossini; Alex M Rossor; Irmak Şahbaz; Qais Sa’di; Ettore Salsano; Alessandro Salvalaggio; Lucio Santoro; Elisa Sarto; Andrew Schaefer; Angelo Schenone; Carolin Scriba; Joseph Shaw; Gabriella Silvestri; James Stevens; Michael Strupp; Charlotte J. Sumner; Agnieszka Szymura; Matteo Tagliapietra; Cristina Tassorelli; Alessandra Tessa; Marie Theaudin; Pedro Tomaselli; Stefano Tozza; Arianna Tucci; Enza Maria Valente; Maurizio Versino; Richard A. Walsh; Nick W. Wood; Way Yan Yau; Stephan Zuchner.
Contributors:	Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Galassi Deforie, Valentina; Fernández-Eulate, Gorka; Traschütz, Andrea; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H.; Parolin Schnekenberg, Ricardo; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; Lòpez de Munaìn, Adolfo; Manganelli, Fiore; Kennerson, Marina; Maria Santorelli, Filippo; Infante, Jon; Jokela, Manu; M Murphy, Sinéad; Mandich, Paola; Maria Fabrizi, Gian; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, Jame; Troakes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthi; Stojkovic, Tanya; Hadjivassiliou, Mario; Reilly, Mary M.; Houlden, Henry; Cortese, Andrea; Albájar, Iné; Ashton, Catherine; Beauchamp, Nick; J Beecroft, Sarah; Bellone, Emilia; Berciano, Josè; Bogdanova-Mihaylova, Petya; Borroni, Barbara; Brais, Bernard; Bugiardini, Enrico; Campos, Catarina; Carr, Aisling; Carroll, Liam; Castellani, Francesca; Cavallaro, Tiziana; Chinnery, Patrick F.; Colnaghi, Silvia; Cosentino, Giuseppe; Damasio, Joana; Das, Soma; Devigili, Grazia; Di Bella, Daniela; Dick, David; Durr, Alexandra; El-Saddig, Amar; Faber, Jennifer; Ferrarini, Moreno; Filosto, Massimiliano; Fuller, Geraint; Gallone, Salvatore; Gemelli, Chiara; Grandis, Marina; Hardy, John; Hewamadduma, Channa; Horvath, Rita; Huin, Vincent; Imperiale, Daniele; Iruzubieta, Pablo; Kaski, Diego; King, Andrew; Klockgether, Thoma; Koç, Müge; Kumar, Kishore R.; Kuntzer, Thierry; Laing, Nigel; Laurà, Matilde; Lavin, Timothy
Publisher Information:	GBR; Oxford; Oxford University Press
Publication Year:	2024
Collection:	Università degli Studi di Genova: CINECA IRIS
Document Type:	article in journal/newspaper
File Description:	ELETTRONICO
Language:	English
Relation:	info:eu-repo/semantics/altIdentifier/wos/WOS:001207431000001; volume:147; firstpage:1887; lastpage:1898; numberofpages:12; journal:BRAIN; https://hdl.handle.net/11567/1182335
DOI:	10.1093/brain/awad436
Availability:	https://hdl.handle.net/11567/1182335; https://doi.org/10.1093/brain/awad436
Rights:	info:eu-repo/semantics/openAccess
Accession Number:	edsbas.FC4C317B
Database:	BASE