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

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

dc.contributor.author	Traschütz, Andreas
dc.contributor.author	Synofzik, Matthis
dc.date.accessioned	2025-02-04T09:04:07Z
dc.date.available	2025-02-04T09:04:07Z
dc.date.issued	2024
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/161579
dc.language.iso	en	en
dc.publisher	Oxford : Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awad436
dc.subject.ddc	610	de_DE
dc.subject.ddc	570	de_DE
dc.title	Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_03187
utue.publikation.seiten	1887-1898	de_DE
utue.personen.roh	Curro, Riccardo
utue.personen.roh	Dominik, Natalia
utue.personen.roh	Facchini, Stefano
utue.personen.roh	Vegezzi, Elisa
utue.personen.roh	Sullivan, Roisin
utue.personen.roh	Deforie, Valentina Galassi
utue.personen.roh	Fernandez-Eulate, Gorka
utue.personen.roh	Traschuetz, Andreas
utue.personen.roh	Rossi, Salvatore
utue.personen.roh	Garibaldi, Matteo
utue.personen.roh	Kwarciany, Mariusz
utue.personen.roh	Taroni, Franco
utue.personen.roh	Brusco, Alfredo
utue.personen.roh	Good, Jean-Marc
utue.personen.roh	Cavalcanti, Francesca
utue.personen.roh	Hammans, Simon
utue.personen.roh	Ravenscroft, Gianina
utue.personen.roh	Roxburgh, Richard H.
utue.personen.roh	Schnekenberg, Ricardo Parolin
utue.personen.roh	Rugginini, Bianca
utue.personen.roh	Abati, Elena
utue.personen.roh	Manini, Arianna
utue.personen.roh	Quartesan, Ilaria
utue.personen.roh	Ghia, Arianna
utue.personen.roh	de Munain, Adolfo Lopez
utue.personen.roh	Manganelli, Fiore
utue.personen.roh	Kennerson, Marina
utue.personen.roh	Santorelli, Filippo Maria
utue.personen.roh	Infante, Jon
utue.personen.roh	Marques, Wilson
utue.personen.roh	Jokela, Manu
utue.personen.roh	Murphy, Sinead M.
utue.personen.roh	Mandich, Paola
utue.personen.roh	Fabrizi, Gian Maria
utue.personen.roh	Briani, Chiara
utue.personen.roh	Gosal, David
utue.personen.roh	Pareyson, Davide
utue.personen.roh	Ferrari, Alberto
utue.personen.roh	Prados, Ferran
utue.personen.roh	Yousry, Tarek
utue.personen.roh	Khurana, Vikram
utue.personen.roh	Kuo, Sheng-Han
utue.personen.roh	Miller, James
utue.personen.roh	Troakkes, Claire
utue.personen.roh	Jaunmuktane, Zane
utue.personen.roh	Giunti, Paola
utue.personen.roh	Hartmann, Annette
utue.personen.roh	Basak, Nazli
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Stojkovic, Tanya
utue.personen.roh	Hadjivassiliou, Marios
utue.personen.roh	Reilly, Mary M.
utue.personen.roh	Houlden, Henry
utue.personen.roh	Cortese, Andrea
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	147	de_DE
utue.fakultaet	04 Medizinische Fakultät
utue.fakultaet	Sonstige