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

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; 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; 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; Null Null

doi:10.1093/brain/awad436

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

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, Inés Albájar, Catherine AshtonNick 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, 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, Null Null

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Lingua originale	English
pagine (da-a)	N/A-N/A
Rivista	Brain
DOI	https://doi.org/10.1093/brain/awad436
Stato di pubblicazione	Pubblicato - 2024

Keywords

CANVAS
RFC1
Southern blotting
ataxia
neuropathy
repeat expansions

Accesso al documento

10.1093/brain/awad436

Altri file e collegamenti

Open Access link a IRIS PubliCatt

Cita questo

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., Albájar, I., ... Null, N. (2024). Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, N/A-N/A. https://doi.org/10.1093/brain/awad436

@article{4d63b9a88af340c0b53bbec6b595038e,

title = "Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease",

keywords = "CANVAS, RFC1, Southern blotting, ataxia, neuropathy, repeat expansions, CANVAS, RFC1, Southern blotting, ataxia, neuropathy, repeat expansions",

author = "Riccardo Curr{\`o} and Natalia Dominik and Stefano Facchini and Elisa Vegezzi and Roisin Sullivan and {Galassi Deforie}, Valentina and Gorka Fern{\'a}ndez-Eulate and Andreas Trasch{\"u}tz and Salvatore Rossi and Matteo Garibaldi and Mariusz Kwarciany and Franco Taroni and Alfredo Brusco and Jean-Marc Good and Francesca Cavalcanti and Simon Hammans and Gianina Ravenscroft and Roxburgh, {Richard H} and In{\'e}s Alb{\'a}jar and Catherine Ashton and Nick Beauchamp and Beecroft, {Sarah J} and Emilia Bellone and Jos{\`e} Berciano and Petya Bogdanova-Mihaylova and Barbara Borroni and Bernard Brais and Enrico Bugiardini and Catarina Campos and Aisling Carr and Liam Carroll and Francesca Castellani and Tiziana Cavallaro and Chinnery, {Patrick F} and Silvia Colnaghi and Giuseppe Cosentino and Joana Damasio and Soma Das and Grazia Devigili and {Di Bella}, Daniela and David Dick and Alexandra Durr and Amar El-Saddig and Jennifer Faber and Moreno Ferrarini and Massimiliano Filosto and Geraint Fuller and Salvatore Gallone and Chiara Gemelli and Marina Grandis and John Hardy and Channa Hewamadduma and Rita Horvath and Vincent Huin and Daniele Imperiale and Pablo Iruzubieta and Diego Kaski and Andrew King and Thomas Klockgether and M{\"u}ge Ko{\c c} and Kumar, {Kishore R} and Thierry Kuntzer and Nigel Laing and Matilde Laur{\`a} and Timothy Lavin and Leigh, {Peter Nigel} and Lea Leonardis and Lunn, {Michael P} and Stefania Magri and Francesca Magrinelli and Malaquias, {Maria Jo{\~a}o} and Michelangelo Mancuso and Hadi Manji and Sara Massucco and John Mcconville and Munhoz, {Renato P} and Sara Nagy and Alain Ndayisaba and Nemeth, {Andrea Hilary} and Novis, {Luiz Eduardo} and Johanna Palmio and Elena Pegoraro and David Pellerin and Benedetta Perrone and Chiara Pisciotta and James Polke and Malcolm Proudfoot and Laura Orsi and Aleksandar Radunovic and Nilo Riva and Aiko Robert and Riccardo Ronco and Elena Rossini and Rossor, {Alex M} and Irmak {\c S}ahbaz and Qais Sa{\textquoteright}Di and Ettore Salsano and Alessandro Salvalaggio and Lucio Santoro and Elisa Sarto and Andrew Schaefer and Angelo Schenone and Carolin Scriba and Joseph Shaw and Gabriella Silvestri and James Stevens and Michael Strupp and Sumner, {Charlotte J} and Agnieszka Szymura and Matteo Tagliapietra and Cristina Tassorelli and Alessandra Tessa and Marie Theaudin and Pedro Tomaselli and Stefano Tozza and Arianna Tucci and Valente, {Enza Maria} and Maurizio Versino and Walsh, {Richard A} and Wood, {Nick W} and Yau, {Way Yan} and Stephan Zuchner and {Parolin Schnekenberg}, Ricardo and Bianca Rugginini and Elena Abati and Arianna Manini and Ilaria Quartesan and Arianna Ghia and {L{\`o}pez de Muna{\`i}n}, Adolfo and Fiore Manganelli and Marina Kennerson and Santorelli, {Filippo Maria} and Jon Infante and Wilson Marques and Manu Jokela and Murphy, {Sin{\'e}ad M} and Paola Mandich and Fabrizi, {Gian Maria} and Chiara Briani and David Gosal and Davide Pareyson and Alberto Ferrari and Ferran Prados and Tarek Yousry and Vikram Khurana and Sheng-Han Kuo and James Miller and Claire Troakes and Zane Jaunmuktane and Paola Giunti and Annette Hartmann and Nazli Basak and Matthis Synofzik and Tanya Stojkovic and Marios Hadjivassiliou and Reilly, {Mary M} and Henry Houlden and Andrea Cortese and Null Null",

year = "2024",

doi = "10.1093/brain/awad436",

language = "English",

pages = "N/A--N/A",

journal = "Brain",

issn = "0006-8950",

publisher = "United Kingdom, Oxford : Oxford University Press",

}

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, RH, Albájar, I, Ashton, C, Beauchamp, N, Beecroft, SJ, Bellone, E, Berciano, J, Bogdanova-Mihaylova, P, Borroni, B, Brais, B, Bugiardini, E, Campos, C, Carr, A, Carroll, L, Castellani, F, Cavallaro, T, Chinnery, PF, Colnaghi, S, Cosentino, G, Damasio, J, Das, S, Devigili, G, Di Bella, D, Dick, D, Durr, A, El-Saddig, A, Faber, J, Ferrarini, M, Filosto, M, Fuller, G, Gallone, S, Gemelli, C, Grandis, M, Hardy, J, Hewamadduma, C, Horvath, R, Huin, V, Imperiale, D, Iruzubieta, P, Kaski, D, King, A, Klockgether, T, Koç, M, Kumar, KR, Kuntzer, T, Laing, N, Laurà, M, Lavin, T, Leigh, PN, Leonardis, L, Lunn, MP, Magri, S, Magrinelli, F, Malaquias, MJ, Mancuso, M, Manji, H, Massucco, S, Mcconville, J, Munhoz, RP, Nagy, S, Ndayisaba, A, Nemeth, AH, Novis, LE, Palmio, J, Pegoraro, E, Pellerin, D, Perrone, B, Pisciotta, C, Polke, J, Proudfoot, M, Orsi, L, Radunovic, A, Riva, N, Robert, A, Ronco, R, Rossini, E, Rossor, AM, Şahbaz, I, Sa’Di, Q, Salsano, E, Salvalaggio, A, Santoro, L, Sarto, E, Schaefer, A, Schenone, A, Scriba, C, Shaw, J, Silvestri, G, Stevens, J, Strupp, M, Sumner, CJ, Szymura, A, Tagliapietra, M, Tassorelli, C, Tessa, A, Theaudin, M, Tomaselli, P, Tozza, S, Tucci, A, Valente, EM, Versino, M, Walsh, RA, Wood, NW, Yau, WY, Zuchner, S, Parolin Schnekenberg, R, Rugginini, B, Abati, E, Manini, A, Quartesan, I, Ghia, A, Lòpez de Munaìn, A, Manganelli, F, Kennerson, M, Santorelli, FM, Infante, J, Marques, W, Jokela, M, Murphy, SM, Mandich, P, Fabrizi, GM, Briani, C, Gosal, D, Pareyson, D, Ferrari, A, Prados, F, Yousry, T, Khurana, V, Kuo, S-H, Miller, J, Troakes, C, Jaunmuktane, Z, Giunti, P, Hartmann, A, Basak, N, Synofzik, M, Stojkovic, T, Hadjivassiliou, M, Reilly, MM, Houlden, H, Cortese, A & Null, N 2024, 'Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease', Brain, pagg. N/A-N/A. https://doi.org/10.1093/brain/awad436

TY - JOUR

T1 - Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

AU - Currò, Riccardo

AU - Dominik, Natalia

AU - Facchini, Stefano

AU - Vegezzi, Elisa

AU - Sullivan, Roisin

AU - Galassi Deforie, Valentina

AU - Fernández-Eulate, Gorka

AU - Traschütz, Andreas

AU - Rossi, Salvatore

AU - Garibaldi, Matteo

AU - Kwarciany, Mariusz

AU - Taroni, Franco

AU - Brusco, Alfredo

AU - Good, Jean-Marc

AU - Cavalcanti, Francesca

AU - Hammans, Simon

AU - Ravenscroft, Gianina

AU - Roxburgh, Richard H

AU - Albájar, Inés

AU - Ashton, Catherine

AU - Beauchamp, Nick

AU - Beecroft, Sarah J

AU - Bellone, Emilia

AU - Berciano, Josè

AU - Bogdanova-Mihaylova, Petya

AU - Borroni, Barbara

AU - Brais, Bernard

AU - Bugiardini, Enrico

AU - Campos, Catarina

AU - Carr, Aisling

AU - Carroll, Liam

AU - Castellani, Francesca

AU - Cavallaro, Tiziana

AU - Chinnery, Patrick F

AU - Colnaghi, Silvia

AU - Cosentino, Giuseppe

AU - Damasio, Joana

AU - Das, Soma

AU - Devigili, Grazia

AU - Di Bella, Daniela

AU - Dick, David

AU - Durr, Alexandra

AU - El-Saddig, Amar

AU - Faber, Jennifer

AU - Ferrarini, Moreno

AU - Filosto, Massimiliano

AU - Fuller, Geraint

AU - Gallone, Salvatore

AU - Gemelli, Chiara

AU - Grandis, Marina

AU - Hardy, John

AU - Hewamadduma, Channa

AU - Horvath, Rita

AU - Huin, Vincent

AU - Imperiale, Daniele

AU - Iruzubieta, Pablo

AU - Kaski, Diego

AU - King, Andrew

AU - Klockgether, Thomas

AU - Koç, Müge

AU - Kumar, Kishore R

AU - Kuntzer, Thierry

AU - Laing, Nigel

AU - Laurà, Matilde

AU - Lavin, Timothy

AU - Leigh, Peter Nigel

AU - Leonardis, Lea

AU - Lunn, Michael P

AU - Magri, Stefania

AU - Magrinelli, Francesca

AU - Malaquias, Maria João

AU - Mancuso, Michelangelo

AU - Manji, Hadi

AU - Massucco, Sara

AU - Mcconville, John

AU - Munhoz, Renato P

AU - Nagy, Sara

AU - Ndayisaba, Alain

AU - Nemeth, Andrea Hilary

AU - Novis, Luiz Eduardo

AU - Palmio, Johanna

AU - Pegoraro, Elena

AU - Pellerin, David

AU - Perrone, Benedetta

AU - Pisciotta, Chiara

AU - Polke, James

AU - Proudfoot, Malcolm

AU - Orsi, Laura

AU - Radunovic, Aleksandar

AU - Riva, Nilo

AU - Robert, Aiko

AU - Ronco, Riccardo

AU - Rossini, Elena

AU - Rossor, Alex M

AU - Şahbaz, Irmak

AU - Sa’Di, Qais

AU - Salsano, Ettore

AU - Salvalaggio, Alessandro

AU - Santoro, Lucio

AU - Sarto, Elisa

AU - Schaefer, Andrew

AU - Schenone, Angelo

AU - Scriba, Carolin

AU - Shaw, Joseph

AU - Silvestri, Gabriella

AU - Stevens, James

AU - Strupp, Michael

AU - Sumner, Charlotte J

AU - Szymura, Agnieszka

AU - Tagliapietra, Matteo

AU - Tassorelli, Cristina

AU - Tessa, Alessandra

AU - Theaudin, Marie

AU - Tomaselli, Pedro

AU - Tozza, Stefano

AU - Tucci, Arianna

AU - Valente, Enza Maria

AU - Versino, Maurizio

AU - Walsh, Richard A

AU - Wood, Nick W

AU - Yau, Way Yan

AU - Zuchner, Stephan

AU - Parolin Schnekenberg, Ricardo

AU - Rugginini, Bianca

AU - Abati, Elena

AU - Manini, Arianna

AU - Quartesan, Ilaria

AU - Ghia, Arianna

AU - Lòpez de Munaìn, Adolfo

AU - Manganelli, Fiore

AU - Kennerson, Marina

AU - Santorelli, Filippo Maria

AU - Infante, Jon

AU - Marques, Wilson

AU - Jokela, Manu

AU - Murphy, Sinéad M

AU - Mandich, Paola

AU - Fabrizi, Gian Maria

AU - Briani, Chiara

AU - Gosal, David

AU - Pareyson, Davide

AU - Ferrari, Alberto

AU - Prados, Ferran

AU - Yousry, Tarek

AU - Khurana, Vikram

AU - Kuo, Sheng-Han

AU - Miller, James

AU - Troakes, Claire

AU - Jaunmuktane, Zane

AU - Giunti, Paola

AU - Hartmann, Annette

AU - Basak, Nazli

AU - Synofzik, Matthis

AU - Stojkovic, Tanya

AU - Hadjivassiliou, Marios

AU - Reilly, Mary M

AU - Houlden, Henry

AU - Cortese, Andrea

AU - Null, Null

PY - 2024

Y1 - 2024

KW - CANVAS

KW - RFC1

KW - Southern blotting

KW - ataxia

KW - neuropathy

KW - repeat expansions

KW - CANVAS

KW - RFC1

KW - Southern blotting

KW - ataxia

KW - neuropathy

KW - repeat expansions

UR - http://hdl.handle.net/10807/264035

U2 - 10.1093/brain/awad436

DO - 10.1093/brain/awad436

M3 - Article

SN - 0006-8950

SP - N/A-N/A

JO - Brain

JF - Brain

ER -