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 JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH, RFC1 repeat expansion study group, 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 SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A

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DOI: 10.1093/brain/awad436
Published: 2024 May 3
Container: Brain : a journal of neurology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1093/brain/awad436,
  title = {Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.},
  author = {Currò R and Dominik N and Facchini S and Vegezzi E and Sullivan R and Galassi Deforie V and Fernández-Eulate G and Traschütz A and Rossi S and Garibaldi M and Kwarciany M and Taroni F and Brusco A and Good JM and Cavalcanti F and Hammans S and Ravenscroft G and Roxburgh RH and RFC1 repeat expansion study group and Parolin Schnekenberg R and Rugginini B and Abati E and Manini A and Quartesan I and Ghia A and Lòpez de Munaìn A and Manganelli F and Kennerson M and Santorelli FM and Infante J and Marques W and Jokela M and Murphy SM and Mandich P and Fabrizi GM and Briani C and Gosal D and Pareyson D and Ferrari A and Prados F and Yousry T and Khurana V and Kuo SH and Miller J and Troakes C and Jaunmuktane Z and Giunti P and Hartmann A and Basak N and Synofzik M and Stojkovic T and Hadjivassiliou M and Reilly MM and Houlden H and Cortese A},
  year = {2024},
  journal = {Brain : a journal of neurology},
  doi = {10.1093/brain/awad436},
  url = {https://doi.org/10.1093/brain/awad436}
}

RIS

TY  - JOUR
TI  - Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
AU  - Currò R
AU  - Dominik N
AU  - Facchini S
AU  - Vegezzi E
AU  - Sullivan R
AU  - Galassi Deforie V
AU  - Fernández-Eulate G
AU  - Traschütz A
AU  - Rossi S
AU  - Garibaldi M
AU  - Kwarciany M
AU  - Taroni F
AU  - Brusco A
AU  - Good JM
AU  - Cavalcanti F
AU  - Hammans S
AU  - Ravenscroft G
AU  - Roxburgh RH
AU  - RFC1 repeat expansion study group
AU  - Parolin Schnekenberg R
AU  - Rugginini B
AU  - Abati E
AU  - Manini A
AU  - Quartesan I
AU  - Ghia A
AU  - Lòpez de Munaìn A
AU  - Manganelli F
AU  - Kennerson M
AU  - Santorelli FM
AU  - Infante J
AU  - Marques W
AU  - Jokela M
AU  - Murphy SM
AU  - Mandich P
AU  - Fabrizi GM
AU  - Briani C
AU  - Gosal D
AU  - Pareyson D
AU  - Ferrari A
AU  - Prados F
AU  - Yousry T
AU  - Khurana V
AU  - Kuo SH
AU  - Miller J
AU  - Troakes C
AU  - Jaunmuktane Z
AU  - Giunti P
AU  - Hartmann A
AU  - Basak N
AU  - Synofzik M
AU  - Stojkovic T
AU  - Hadjivassiliou M
AU  - Reilly MM
AU  - Houlden H
AU  - Cortese A
PY  - 2024
JO  - Brain : a journal of neurology
DO  - 10.1093/brain/awad436
UR  - https://doi.org/10.1093/brain/awad436
ER  -

APA

R, C., N, D., S, F., E, V., R, S., V, G. D., G, F., A, T., S, R., M, G., M, K., F, T., A, B., JM, G., F, C., S, H., G, R., RH, R., group, R. R. E. S., R, P. S., B, R., E, A., A, M., I, Q., A, G., A, L. D. M., F, M., M, K., FM, S., J, I., W, M., M, J., SM, M., P, M., GM, F., C, B., D, G., D, P., A, F., F, P., T, Y., V, K., SH, K., J, M., C, T., Z, J., P, G., A, H., N, B., M, S., T, S., M, H., MM, R., H, H., & A, C. (2024). Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.. Brain : a journal of neurology. https://doi.org/10.1093/brain/awad436

Source records

pubmed · retrieved 2026-09-26T20:44:50.835Z