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The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E. Semplicini C, et al. Among authors: colombo i. Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26. Neurology. 2018. PMID: 30258016 Free PMC article.
IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis.
Colombo I, Fruguglietti ME, Napoli L, Sciacco M, Tagliaferri E, Della Volpe A, Crugnola V, Bresolin N, Moggio M, Prelle A. Colombo I, et al. Neurol Res Int. 2010;2010:808474. doi: 10.1155/2010/808474. Epub 2010 Jul 19. Neurol Res Int. 2010. PMID: 21188228 Free PMC article.
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: colombo i. J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042. J Neurol Sci. 2011. PMID: 21689831 Free PMC article.
Mitochondrial disease heterogeneity: a prognostic challenge.
Moggio M, Colombo I, Peverelli L, Villa L, Xhani R, Testolin S, Di Mauro S, Sciacco M. Moggio M, et al. Among authors: colombo i. Acta Myol. 2014 Oct;33(2):86-93. Acta Myol. 2014. PMID: 25709378 Free PMC article.
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M. Ripolone M, et al. Among authors: colombo i. JAMA Neurol. 2015 Jun;72(6):666-75. doi: 10.1001/jamaneurol.2015.0178. JAMA Neurol. 2015. PMID: 25844556 Free PMC article.
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Fattori F, et al. Among authors: colombo i. J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10. J Neurol. 2015. PMID: 25957634
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
Colombo I, Pagliarani S, Testolin S, Cinnante CM, Fagiolari G, Ciscato P, Bordoni A, Fortunato F, Magri F, Previtali SC, Velardo D, Sciacco M, Comi GP, Moggio M. Colombo I, et al. J Neurol Neurosurg Psychiatry. 2016 Jul;87(7):797-800. doi: 10.1136/jnnp-2015-310553. Epub 2015 Jul 22. J Neurol Neurosurg Psychiatry. 2016. PMID: 26203156 No abstract available.
148 results