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Page 1
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V. Valente L, et al. Among authors: piga d. Biochim Biophys Acta. 2009 May;1787(5):491-501. doi: 10.1016/j.bbabio.2008.10.001. Epub 2008 Oct 15. Biochim Biophys Acta. 2009. PMID: 18977334 Free article.
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP. Piga D, et al. Among authors: d amico a. J Mol Neurosci. 2016 Jul;59(3):351-9. doi: 10.1007/s12031-016-0739-2. Epub 2016 Apr 22. J Mol Neurosci. 2016. PMID: 27105866
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D. Zanotti S, et al. Among authors: piga d. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
Ronchi D, Liu C, Caporali L, Piga D, Li H, Tagliavini F, Valentino ML, Ferrò MT, Bini P, Zheng L, Carelli V, Shen B, Comi GP. Ronchi D, et al. Among authors: piga d. Ann Clin Transl Neurol. 2019 Sep;6(9):1893-1899. doi: 10.1002/acn3.50888. Epub 2019 Sep 2. Ann Clin Transl Neurol. 2019. PMID: 31478350 Free PMC article.
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: piga d. Front Neurol. 2021 Jun 28;12:664618. doi: 10.3389/fneur.2021.664618. eCollection 2021. Front Neurol. 2021. PMID: 34262519 Free PMC article.
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.
Fumagalli M, Ronchi D, Bedeschi MF, Manini A, Cristofori G, Mosca F, Dilena R, Sciacco M, Zanotti S, Piga D, Ardissino G, Triulzi F, Corti S, Comi GP, Salviati L. Fumagalli M, et al. Among authors: piga d. Mol Genet Metab Rep. 2022 Jun 18;32:100887. doi: 10.1016/j.ymgmr.2022.100887. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35756861 Free PMC article.
37 results