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

Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernández-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J.-M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R. H., … Cortese, A. (2024). Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147(5), 1887–1898. https://doi.org/10.1093/brain/awad436
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
Wilson Marques
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
Affiliated Authors:
Sheng-Han Kuo
Columbia Affiliation:
Subjects:
Replication Protein C (MeSH)
Age of Onset (MeSH)
Author Keywords:
canvas
rfc1
ataxia
neuropathy
repeat expansions
southern blotting
elink
Publication Type:
Article
Unique ID:
10.1093/brain/awad436
PMID:
38193360
DOI:
10.1093/brain/awad436
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: