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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.
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.
Marchi M, Salvi E, Andelic M, Mehmeti E, D'Amato I, Cazzato D, Chiappori F, Lombardi R, Cartelli D, Devigili G, Dalla Bella E, Gerrits M, Almomani R, Malik RA, Ślęczkowska M, Mazzeo A, Gentile L, Dib-Hajj S, Waxman SG, Faber CG, Vecchio E, de Tommaso M, Lauria G. Marchi M, et al. Among authors: devigili g. Pain. 2023 Sep 1;164(9):2048-2059. doi: 10.1097/j.pain.0000000000002905. Epub 2023 Apr 19. Pain. 2023. PMID: 37079850 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
106 results