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Page 1
The empowerment of translational research: lessons from laminopathies.
Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M. Benedetti S, et al. Among authors: morandi lo. Orphanet J Rare Dis. 2012 Jun 12;7:37. doi: 10.1186/1750-1172-7-37. Orphanet J Rare Dis. 2012. PMID: 22691392 Free PMC article.
LMNA-associated myopathies: the Italian experience in a large cohort of patients.
Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L. Maggi L, et al. Neurology. 2014 Oct 28;83(18):1634-44. doi: 10.1212/WNL.0000000000000934. Epub 2014 Oct 1. Neurology. 2014. PMID: 25274841
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.
Bernasconi P, Carboni N, Ricci G, Siciliano G, Politano L, Maggi L, Mongini T, Vercelli L, Rodolico C, Biagini E, Boriani G, Ruggiero L, Santoro L, Schena E, Prencipe S, Evangelisti C, Pegoraro E, Morandi L, Columbaro M, Lanzuolo C, Sabatelli P, Cavalcante P, Cappelletti C, Bonne G, Muchir A, Lattanzi G. Bernasconi P, et al. Nucleus. 2018 Jan 1;9(1):292-304. doi: 10.1080/19491034.2018.1467722. Nucleus. 2018. PMID: 29693488 Free PMC article.
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies. Fiorillo C, et al. Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1. Orphanet J Rare Dis. 2016. PMID: 27387980 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. 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.
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C. De Filippi P, et al. Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z. Orphanet J Rare Dis. 2014. PMID: 25103075 Free PMC article.
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.
Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E. Pane M, et al. PLoS One. 2014 Jan 8;9(1):e83400. doi: 10.1371/journal.pone.0083400. eCollection 2014. PLoS One. 2014. PMID: 24421885 Free PMC article. Clinical Trial.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.
200 results