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TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models.
Longo M, Meroni M, Paolini E, Erconi V, Carli F, Fortunato F, Ronchi D, Piciotti R, Sabatini S, Macchi C, Alisi A, Miele L, Soardo G, Comi GP, Valenti L, Ruscica M, Fracanzani AL, Gastaldelli A, Dongiovanni P. Longo M, et al. Among authors: comi gp. Cell Mol Gastroenterol Hepatol. 2022;13(3):759-788. doi: 10.1016/j.jcmgh.2021.11.007. Epub 2021 Nov 23. Cell Mol Gastroenterol Hepatol. 2022. PMID: 34823063 Free PMC article.
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP. Di Fonzo A, et al. Among authors: comi gp. Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014 May 7. Neurology. 2014. PMID: 24808015
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. Among authors: comi gp. 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.
525 results