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Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies.
Mauri E, Piga D, Govoni A, Brusa R, Pagliarani S, Ripolone M, Dilena R, Cinnante C, Sciacco M, Cassandrini D, Nigro V, Bresolin N, Corti S, Comi GP, Magri F. Mauri E, et al. Among authors: comi gp. Front Neurol. 2021 Jun 28;12:664618. doi: 10.3389/fneur.2021.664618. eCollection 2021. Front Neurol. 2021. PMID: 34262519 Free PMC article.
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: comi gp. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4.
Pagliarani S, Lucchiari S, Scarlato M, Redaelli E, Modoni A, Magri F, Fossati B, Previtali SC, Sansone VA, Lecchi M, Lo Monaco M, Meola G, Comi GP. Pagliarani S, et al. Among authors: comi gp. Front Neurol. 2020 Apr 29;11:255. doi: 10.3389/fneur.2020.00255. eCollection 2020. Front Neurol. 2020. PMID: 32411069 Free PMC article.
514 results