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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: massa r. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group. Pennisi EM, et al. Among authors: massa r. Orphanet J Rare Dis. 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. Orphanet J Rare Dis. 2017. PMID: 28499397 Free PMC article.
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
Romano S, Bacigalupo I, Marcotulli C, Cioffi E, Bertini ES, Vasco G, Perna A, Petrucci A, Massa R, Frezza E, Romano C, Salvetti M, Ristori G, Silvestri G, Vanacore N, Casali C. Romano S, et al. Among authors: massa r. Neuroepidemiology. 2022;56(3):212-218. doi: 10.1159/000525159. Epub 2022 May 30. Neuroepidemiology. 2022. PMID: 35636410
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.
Bianchi ML, Leoncini E, Masciullo M, Modoni A, Gadalla SM, Massa R, Rastelli E, Terracciano C, Antonini G, Bucci E, Petrucci A, Costanzi S, Santoro M, Boccia S, Silvestri G. Bianchi ML, et al. Among authors: massa r. J Neurol. 2016 Mar;263(3):492-8. doi: 10.1007/s00415-015-8006-y. Epub 2016 Jan 6. J Neurol. 2016. PMID: 26739382 Free PMC article.
Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. Among authors: massa r. J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13. J Neurol. 2017. PMID: 28503705 Free PMC article.
Italian recommendations for the diagnosis and treatment of myasthenia gravis.
Evoli A, Antonini G, Antozzi C, DiMuzio A, Habetswallner F, Iani C, Inghilleri M, Liguori R, Mantegazza R, Massa R, Pegoraro E, Ricciardi R, Rodolico C. Evoli A, et al. Among authors: massa r. Neurol Sci. 2019 Jun;40(6):1111-1124. doi: 10.1007/s10072-019-03746-1. Epub 2019 Feb 18. Neurol Sci. 2019. PMID: 30778878
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, Meleo E, Calvello M, Petrucci A, Antonini G, Bucci E, Licchelli L, Sancricca C, Massa R, Rastelli E, Botta A, Di Muzio A, Romano S, Garibaldi M, Silvestri G. Rossi S, et al. Among authors: massa r. J Neurol Sci. 2019 Apr 15;399:118-124. doi: 10.1016/j.jns.2019.02.012. Epub 2019 Feb 7. J Neurol Sci. 2019. PMID: 30798109
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
Botta A, Visconti VV, Fontana L, Bisceglia P, Bengala M, Massa R, Bagni I, Cardani R, Sangiuolo F, Meola G, Antonini G, Petrucci A, Pegoraro E, D'Apice MR, Novelli G. Botta A, et al. Among authors: massa r. Front Genet. 2021 Jun 21;12:668094. doi: 10.3389/fgene.2021.668094. eCollection 2021. Front Genet. 2021. PMID: 34234810 Free PMC article.
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. Among authors: massa r. J Neurol. 2017 Jul;264(7):1343-1344. doi: 10.1007/s00415-017-8528-6. J Neurol. 2017. PMID: 28608302 Free PMC article. No abstract available.
341 results