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Page 1
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. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Paroxysmal itch caused by gain-of-function Nav1.7 mutation.
Devigili G, Eleopra R, Pierro T, Lombardi R, Rinaldo S, Lettieri C, Faber CG, Merkies ISJ, Waxman SG, Lauria G. Devigili G, et al. Pain. 2014 Sep;155(9):1702-1707. doi: 10.1016/j.pain.2014.05.006. Epub 2014 May 10. Pain. 2014. PMID: 24820863
Side and time variability of intraepidermal nerve fiber density.
Lauria G, Dacci P, Lombardi R, Cazzato D, Porretta-Serapiglia C, Taiana M, Sassone J, Dalla Bella E, Rinaldo S, Lettieri C, Eleopra R, Devigili G. Lauria G, et al. Among authors: devigili g. Neurology. 2015 Jun 9;84(23):2368-71. doi: 10.1212/WNL.0000000000001666. Epub 2015 May 13. Neurology. 2015. PMID: 25972491 Free article.
107 results