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Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Mancuso M, Salviati L, Sacconi S, Otaegui D, Camaño P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH. Mancuso M, et al. Among authors: salviati l. Neurology. 2002 Oct 22;59(8):1197-202. doi: 10.1212/01.wnl.0000028689.93049.9a. Neurology. 2002. PMID: 12391347
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L. Casarin A, et al. Among authors: salviati l. Orphanet J Rare Dis. 2012 Apr 19;7:21. doi: 10.1186/1750-1172-7-21. Orphanet J Rare Dis. 2012. PMID: 22515166 Free PMC article.
Facioscapulohumeral muscular dystrophy.
Sacconi S, Salviati L, Desnuelle C. Sacconi S, et al. Among authors: salviati l. Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Biochim Biophys Acta. 2015. PMID: 24882751 Free article. Review.
Genetics of coenzyme q10 deficiency.
Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Doimo M, et al. Among authors: salviati l. Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826. Mol Syndromol. 2014. PMID: 25126048 Free PMC article.
Coenzyme Q biosynthesis in health and disease.
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Acosta MJ, et al. Among authors: salviati l. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Biochim Biophys Acta. 2016. PMID: 27060254 Free article. Review.
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O. Vetro A, et al. Among authors: salviati l. Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15. Eur J Hum Genet. 2017. PMID: 28198391 Free PMC article.
199 results