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VCP-related myopathy: a case series and a review of literature.
Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, Ruggieri A, Maggi L. Iannibelli E, et al. Among authors: maggi l. Acta Myol. 2023 Mar 31;42(1):2-13. doi: 10.36185/2532-1900-244. eCollection 2023. Acta Myol. 2023. PMID: 37091525 Free PMC article. Review.
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA. Ruggieri A, et al. Among authors: maggi l. Acta Neuropathol Commun. 2015 Jul 25;3:44. doi: 10.1186/s40478-015-0224-0. Acta Neuropathol Commun. 2015. PMID: 26205529 Free PMC article.
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.
Bragato C, Gaudenzi G, Blasevich F, Pavesi G, Maggi L, Giunta M, Cotelli F, Mora M. Bragato C, et al. Among authors: maggi l. Sci Rep. 2016 Feb 4;6:20466. doi: 10.1038/srep20466. Sci Rep. 2016. PMID: 26842864 Free PMC article.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: maggi l. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Missaglia S, Maggi L, Mora M, Gibertini S, Blasevich F, Agostoni P, Moro L, Cassandrini D, Santorelli FM, Gerevini S, Tavian D. Missaglia S, et al. Among authors: maggi l. Neuromuscul Disord. 2017 May;27(5):481-486. doi: 10.1016/j.nmd.2017.01.011. Epub 2017 Jan 17. Neuromuscul Disord. 2017. PMID: 28258942 Free PMC article.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: maggi l. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
584 results