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Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V. Conforti FL, et al. Among authors: cavalcanti f. Neurology. 2012 Dec 11;79(24):2315-20. doi: 10.1212/WNL.0b013e318278b618. Epub 2012 Nov 28. Neurology. 2012. PMID: 23197749
Determinants of onset age in Friedreich's ataxia.
De Michele G, Filla A, Criscuolo C, Scarano V, Cavalcanti F, Pianese L, Monticelli A, Cocozza S. De Michele G, et al. Among authors: cavalcanti f. J Neurol. 1998 Mar;245(3):166-8. doi: 10.1007/s004150050198. J Neurol. 1998. PMID: 9553847
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.
La Cognata V, Morello G, Gentile G, Cavalcanti F, Cittadella R, Conforti FL, De Marco EV, Magariello A, Muglia M, Patitucci A, Spadafora P, D'Agata V, Ruggieri M, Cavallaro S. La Cognata V, et al. Among authors: cavalcanti f. Curr Genomics. 2018 Sep;19(6):431-443. doi: 10.2174/1389202919666180404105451. Curr Genomics. 2018. PMID: 30258275 Free PMC article.
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. Among authors: cavalcanti f. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
145 results