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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. Among authors: cortese a. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 Free PMC article.
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Taschner PE, Cortese A, Tucci A. Taschner PE, et al. Among authors: cortese a. Neurology. 2015 Feb 10;84(6):632. doi: 10.1212/WNL.0000000000001248. Neurology. 2015. PMID: 25666632 No abstract available.
Author response.
Cortese A, Tucci A. Cortese A, et al. Neurology. 2015 Feb 10;84(6):632. Neurology. 2015. PMID: 25811064 No abstract available.
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area.
Cortese A, Vita G, Luigetti M, Russo M, Bisogni G, Sabatelli M, Manganelli F, Santoro L, Cavallaro T, Fabrizi GM, Schenone A, Grandis M, Gemelli C, Mauro A, Pradotto LG, Gentile L, Stancanelli C, Lozza A, Perlini S, Piscosquito G, Calabrese D, Mazzeo A, Obici L, Pareyson D. Cortese A, et al. J Neurol. 2016 May;263(5):916-924. doi: 10.1007/s00415-016-8064-9. Epub 2016 Mar 16. J Neurol. 2016. PMID: 26984605
Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area.
Cortese A, Vita G, Luigetti M, Russo M, Bisogni G, Sabatelli M, Manganelli F, Santoro L, Cavallaro T, Fabrizi GM, Schenone A, Grandis M, Gemelli C, Mauro A, Pradotto LG, Gentile L, Stancanelli C, Lozza A, Perlini S, Piscosquito G, Calabrese D, Mazzeo A, Obici L, Pareyson D. Cortese A, et al. J Neurol. 2016 May;263(5):925-926. doi: 10.1007/s00415-016-8116-1. J Neurol. 2016. PMID: 27098978 No abstract available.
Botulinum Toxin Is Effective in the Management of Neurogenic Dysphagia. Clinical-Electrophysiological Findings and Tips on Safety in Different Neurological Disorders.
Alfonsi E, Restivo DA, Cosentino G, De Icco R, Bertino G, Schindler A, Todisco M, Fresia M, Cortese A, Prunetti P, Ramusino MC, Moglia A, Sandrini G, Tassorelli C. Alfonsi E, et al. Among authors: cortese a. Front Pharmacol. 2017 Feb 22;8:80. doi: 10.3389/fphar.2017.00080. eCollection 2017. Front Pharmacol. 2017. PMID: 28275351 Free PMC article.
345 results