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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.
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.
-Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nicolotti, O., Mora, M., Bernasconi, P., Desaphy, J....
-Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R. …
A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.
Colleoni L, Galbardi B, Barzago C, Bonanno S, Franzi S, Frangiamore R, Camera G, Foti M, Biancolini D, Canioni E, Maggi L, Antozzi C, Mantegazza R, Bernasconi P, Kapetis D. Colleoni L, et al. Among authors: maggi l. Pharmacogenet Genomics. 2017 Feb;27(2):51-56. doi: 10.1097/FPC.0000000000000257. Pharmacogenet Genomics. 2017. PMID: 27922550
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
Maggi L, Ravaglia S, Farinato A, Brugnoni R, Altamura C, Imbrici P, Camerino DC, Padovani A, Mantegazza R, Bernasconi P, Desaphy JF, Filosto M. Maggi L, et al. Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5. Epub 2017 Oct 9. Neurogenetics. 2017. PMID: 28993909
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. Among authors: maggi l. Nucleus. 2018 Jan 1;9(1):292-304. doi: 10.1080/19491034.2018.1467722. Nucleus. 2018. PMID: 29693488 Free PMC article.
613 results