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Showing results for caterina garone
Search for Katerina Garane instead (2 results)
Towards a therapy for mitochondrial disease: an update.
Garone C, Viscomi C. Garone C, et al. Biochem Soc Trans. 2018 Oct 19;46(5):1247-1261. doi: 10.1042/BST20180134. Epub 2018 Oct 8. Biochem Soc Trans. 2018. PMID: 30301846 Free PMC article. Review.
Metabolic myopathies.
DiMauro S, Garone C, Naini A. DiMauro S, et al. Among authors: garone c. Curr Rheumatol Rep. 2010 Oct;12(5):386-93. doi: 10.1007/s11926-010-0119-9. Curr Rheumatol Rep. 2010. PMID: 20676808
A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit.
Rebelo-Guiomar P, Pellegrino S, Dent KC, Sas-Chen A, Miller-Fleming L, Garone C, Van Haute L, Rogan JF, Dinan A, Firth AE, Andrews B, Whitworth AJ, Schwartz S, Warren AJ, Minczuk M. Rebelo-Guiomar P, et al. Among authors: garone c. Nat Commun. 2022 Feb 17;13(1):929. doi: 10.1038/s41467-022-28503-5. Nat Commun. 2022. PMID: 35177605 Free PMC article.
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.
Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M. Van Haute L, et al. Among authors: garone c. Nucleic Acids Res. 2019 Sep 19;47(16):8720-8733. doi: 10.1093/nar/gkz559. Nucleic Acids Res. 2019. PMID: 31276587 Free PMC article.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: garone c. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Among authors: garone c. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.
46 results