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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 3
1998 1
1999 1
2000 1
2002 1
2007 1
2010 1
2013 2
2014 1
2015 2
2016 1
2017 2
2018 1
2019 1
2020 4
2021 3
2022 1
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23 results
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Page 1
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: brugnoni r. 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.
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. 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
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
Maggi L, Bernasconi P, D'Amico A, Brugnoni R, Fiorillo C, Garibaldi M, Astrea G, Bruno C, Santorelli FM, Liguori R, Antonini G, Evoli A, Bertini E, Rodolico C, Mantegazza R. Maggi L, et al. Among authors: brugnoni r. Neurol Sci. 2019 Mar;40(3):457-468. doi: 10.1007/s10072-018-3682-x. Epub 2018 Dec 15. Neurol Sci. 2019. PMID: 30554356
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi L, Brugnoni R, Canioni E, Tonin P, Saletti V, Sola P, Piccinelli SC, Colleoni L, Ferrigno P, Pini A, Masson R, Manganelli F, Lietti D, Vercelli L, Ricci G, Bruno C, Tasca G, Pizzuti A, Padovani A, Fusco C, Pegoraro E, Ruggiero L, Ravaglia S, Siciliano G, Morandi L, Dubbioso R, Mongini T, Filosto M, Tramacere I, Mantegazza R, Bernasconi P. Maggi L, et al. Among authors: brugnoni r. Front Neurol. 2020 Jul 29;11:646. doi: 10.3389/fneur.2020.00646. eCollection 2020. Front Neurol. 2020. PMID: 32849172 Free PMC article.
Efficacy of propafenone in paramyotonia congenita.
Alfonsi E, Merlo IM, Tonini M, Ravaglia S, Brugnoni R, Gozzini A, Moglia A. Alfonsi E, et al. Among authors: brugnoni r. Neurology. 2007 Mar 27;68(13):1080-1. doi: 10.1212/01.wnl.0000257825.29703.e8. Neurology. 2007. PMID: 17389319 No abstract available.
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: brugnoni r. Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5. Epub 2017 Oct 9. Neurogenetics. 2017. PMID: 28993909
23 results