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MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, Cassandrini D, Grimoldi N, Conte G, Cinnante C, Santorelli FM, Comi GP, Sciacco M, Peverelli L. Telese R, et al. Among authors: fagiolari g. Mol Genet Genomic Med. 2020 Sep;8(9):e1320. doi: 10.1002/mgg3.1320. Epub 2020 Jun 24. Mol Genet Genomic Med. 2020. PMID: 32578970 Free PMC article.
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: fagiolari g. 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.
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.
Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N, Comi GP, Corti S. Bersano A, et al. Among authors: fagiolari g. Neurobiol Aging. 2009 May;30(5):752-8. doi: 10.1016/j.neurobiolaging.2007.08.009. Epub 2007 Sep 24. Neurobiol Aging. 2009. PMID: 17889967
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