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Page 1
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. Among authors: bernasconi p. Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5. Epub 2017 Oct 9. Neurogenetics. 2017. PMID: 28993909
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: bernasconi p. 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.
Furthermore, it could be relevant to the study and therapy of any channelopathy.-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, …
Furthermore, it could be relevant to the study and therapy of any channelopathy.-Imbrici, P., Altamura, C., Camerino, G. M., Mangiato …
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
Brugnoni R, Maggi L, Canioni E, Verde F, Gallone A, Ariatti A, Filosto M, Petrelli C, Logullo FO, Esposito M, Ruggiero L, Tonin P, Riguzzi P, Pegoraro E, Torri F, Ricci G, Siciliano G, Silani V, Merlini L, De Pasqua S, Liguori R, Pini A, Mariotti C, Moroni I, Imbrici P, Desaphy JF, Mantegazza R, Bernasconi P. Brugnoni R, et al. Among authors: bernasconi p. Neuromuscul Disord. 2021 Apr;31(4):336-347. doi: 10.1016/j.nmd.2020.12.003. Epub 2020 Dec 14. Neuromuscul Disord. 2021. PMID: 33573884
Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S, Maggi L, Zito A, Arceri S, Gallotti P, Altamura C, Desaphy JF, Bernasconi P, Alfonsi E. Ravaglia S, et al. Among authors: bernasconi p. Muscle Nerve. 2021 Jul;64(1):95-99. doi: 10.1002/mus.27249. Epub 2021 Apr 20. Muscle Nerve. 2021. PMID: 33835497
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: bernasconi p. 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.
Autoimmune mechanisms in myasthenia gravis.
Cavalcante P, Bernasconi P, Mantegazza R. Cavalcante P, et al. Among authors: bernasconi p. Curr Opin Neurol. 2012 Oct;25(5):621-9. doi: 10.1097/WCO.0b013e328357a829. Curr Opin Neurol. 2012. PMID: 22941261 Review.
524 results