Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Year of publication
2024
Authors
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, Brusco Alfredo, Good Jean-Marc, Cavalcanti Francesca, Hammans Simon, Ravenscroft Gianina, Roxburgh Richard H; RFC1 repeat expansion study group, Parolin Schnekenberg Ricardo, Rugginini Bianca, Abati Elena, Manini Arianna, Quartesan Ilaria, Ghia Arianna, Lòpez de Munaìn Adolfo, Manganelli Fiore, Kennerson Marina, Santorelli Filippo Maria, Infante Jon, Marques Wilson, Jokela Manu, Murphy Sinéad 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, Troakes
Show moreOrganizations and authors
University of Turku
Jokela Manu
Tampere University
Jokela Manu
Tampere University Hospital Catchment Area
Jokela Manu
Turku University Hospital Catchment Area
Jokela Manu
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Open access
Open access in the publisher’s service
Yes
Open access of publication channel
Partially open publication channel
Self-archived
Yes
Other information
Fields of science
Neurosciences
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
No
DOI
10.1093/brain/awad436
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes