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ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
Imbrici P, Maggi L, Mangiatordi GF, Dinardo MM, Altamura C, Brugnoni R, Alberga D, Pinter GL, Ricci G, Siciliano G, Micheli R, Annicchiarico G, Lattanzi G, Nicolotti O, Morandi L, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. Imbrici P, et al. Among authors: maggi l. J Physiol. 2015 Sep 15;593(18):4181-99. doi: 10.1113/JP270358. Epub 2015 Jul 14. J Physiol. 2015. PMID: 26096614 Free PMC article.
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.
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
Imbrici P, Altamura C, Camerino GM, Mangiatordi GF, Conte E, Maggi L, Brugnoni R, Musaraj K, Caloiero R, Alberga D, Marsano RM, Ricci G, Siciliano G, Nicolotti O, Mora M, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. Imbrici P, et al. Among authors: maggi l. FASEB J. 2016 Oct;30(10):3285-3295. doi: 10.1096/fj.201500079R. Epub 2016 Jun 20. FASEB J. 2016. PMID: 27324117 Free PMC article.
., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. ...
., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, …
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.
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.
Gherardi S, Bovolenta M, Passarelli C, Falzarano MS, Pigini P, Scotton C, Neri M, Armaroli A, Osman H, Selvatici R, Gualandi F, Recchia A, Mora M, Bernasconi P, Maggi L, Morandi L, Ferlini A, Perini G. Gherardi S, et al. Among authors: maggi l. Biochim Biophys Acta Gene Regul Mech. 2017 Nov;1860(11):1138-1147. doi: 10.1016/j.bbagrm.2017.08.010. Epub 2017 Sep 1. Biochim Biophys Acta Gene Regul Mech. 2017. PMID: 28867298 Free article.
584 results