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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. Among authors: garibaldi m. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.
Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, Moretti F. Teveroni E, et al. Among authors: garibaldi m. J Clin Invest. 2017 Apr 3;127(4):1531-1545. doi: 10.1172/JCI89401. Epub 2017 Mar 6. J Clin Invest. 2017. PMID: 28263188 Free PMC article.
Eculizumab improves fatigue in refractory generalized myasthenia gravis.
Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr; REGAIN Study Group. Andersen H, et al. Qual Life Res. 2019 Aug;28(8):2247-2254. doi: 10.1007/s11136-019-02148-2. Epub 2019 Mar 23. Qual Life Res. 2019. PMID: 30905021 Free PMC article. Clinical Trial.
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Renard D, Taieb G, Garibaldi M, Maues De Paula A, Bernard R, Lagha N, Cristofari G, Vovan C, Chaix C, Lévy N, Khau Van Kien P, Sacconi S. Renard D, et al. Among authors: garibaldi m. Am J Med Genet A. 2018 Aug;176(8):1760-1763. doi: 10.1002/ajmg.a.38843. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055030
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.
Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr; Regain Study Group. Muppidi S, et al. Muscle Nerve. 2019 Jul;60(1):14-24. doi: 10.1002/mus.26447. Epub 2019 Mar 8. Muscle Nerve. 2019. PMID: 30767274 Free PMC article.
119 results