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Page 1
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: di muzio a. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, Vallarola A, Villa L, Govi M, Maranda L, Di Muzio A, Scarlato M, Bucci E, Maggi L, Rodolico C, Moggio M, Filosto M, Antonini G, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Siciliano G, Tomelleri G, Santoro L, Mongini T, Tupler R. Vercelli L, et al. Among authors: di muzio a. J Neurol. 2021 Jan;268(1):356-366. doi: 10.1007/s00415-020-10144-7. Epub 2020 Aug 19. J Neurol. 2021. PMID: 32813049 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. 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: di muzio a. 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
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
Mauri E, Abati E, Musumeci O, Rodolico C, D'Angelo MG, Mirabella M, Lucchini M, Bello L, Pegoraro E, Maggi L, Manneschi L, Gemelli C, Grandis M, Zuppa A, Massucco S, Benedetti L, Caponnetto C, Schenone A, Prelle A, Previtali SC, Scarlato M, D'Amico A, Bertini E, Pennisi EM, De Giglio L, Pane M, Mercuri E, Mongini T, Ricci F, Berardinelli A, Astrea G, Lenzi S, Battini R, Ricci G, Torri F, Siciliano G, Santorelli FM, Ariatti A, Filosto M, Passamano L, Politano L, Scutifero M, Tonin P, Fossati B, Panicucci C, Bruno C, Ravaglia S, Monforte M, Tasca G, Ricci E, Petrucci A, Santoro L, Ruggiero L, Barp A, Albamonte E, Sansone V, Gagliardi D, Costamagna G, Govoni A, Magri F, Brusa R, Velardo D, Meneri M, Sciacco M, Corti S, Bresolin N, Moroni I, Messina S, Di Muzio A, Nigro V, Liguori R, Antonini G, Toscano A, Minetti C, Comi GP; Italian Association of Myology. Mauri E, et al. Among authors: di muzio a. Acta Myol. 2020 Jun 1;39(2):57-66. doi: 10.36185/2532-1900-008. eCollection 2020 Jun. Acta Myol. 2020. PMID: 32904925 Free PMC article.
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R. Ricci G, et al. Among authors: di muzio a. Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7. Sci Rep. 2020. PMID: 33303865 Free PMC article.
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country.
Luigetti M, Guglielmino V, Antonini G, Casali C, Ceccanti M, Chiappini MG, De Giglio L, Di Lazzaro V, Di Muzio A, Goglia M, Inghilleri M, Leonardi L, Massa R, Pennisi EM, Petrucci A, Proietti E, Rispoli M, Sabatelli M, Di Girolamo M. Luigetti M, et al. Among authors: di lazzaro v, di muzio a, di girolamo m. Genes (Basel). 2021 May 28;12(6):829. doi: 10.3390/genes12060829. Genes (Basel). 2021. PMID: 34071271 Free PMC article.
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Ticci C, Cassandrini D, Rubegni A, Riva B, Vattemi G, Matà S, Ricci G, Baldacci J, Guglielmi V, Di Muzio A, Malandrini A, Tonin P, Siciliano G, Federico A, Genazzani AA, Santorelli FM, Merlini L. Ticci C, et al. Among authors: di muzio a. Muscle Nerve. 2021 Nov;64(5):567-575. doi: 10.1002/mus.27391. Epub 2021 Aug 26. Muscle Nerve. 2021. PMID: 34368974
Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1".
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: di muzio a. J Neurol Sci. 2019 Aug 15;403:166-167. doi: 10.1016/j.jns.2019.05.025. Epub 2019 May 24. J Neurol Sci. 2019. PMID: 31153591 No abstract available.
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. Musumeci O, et al. Among authors: di muzio a, di iorio g. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783438
103 results