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Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.
Zanfardino P, Doccini S, Santorelli FM, Petruzzella V. Zanfardino P, et al. Among authors: petruzzella v. Int J Mol Sci. 2021 Aug 3;22(15):8325. doi: 10.3390/ijms22158325. Int J Mol Sci. 2021. PMID: 34361091 Free PMC article. Review.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: petruzzella v. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.
Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: petruzzella v. BMC Med Genet. 2018 Jul 27;19(1):129. doi: 10.1186/s12881-018-0644-3. BMC Med Genet. 2018. PMID: 30053855 Free PMC article.
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM. Petruzzella V, et al. Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. doi: 10.1016/j.bbrc.2007.01.140. Epub 2007 Feb 2. Biochem Biophys Res Commun. 2007. PMID: 17292333
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).
Artuso L, Romano A, Verri T, Domenichini A, Argenton F, Santorelli FM, Petruzzella V. Artuso L, et al. Among authors: petruzzella v. Biochim Biophys Acta. 2012 Jul;1817(7):1002-11. doi: 10.1016/j.bbabio.2012.03.019. Epub 2012 Mar 23. Biochim Biophys Acta. 2012. PMID: 22465854 Free article.
The Underestimated Role of the p53 Pathway in Renal Cancer.
Amendolare A, Marzano F, Petruzzella V, Vacca RA, Guerrini L, Pesole G, Sbisà E, Tullo A. Amendolare A, et al. Among authors: petruzzella v. Cancers (Basel). 2022 Nov 22;14(23):5733. doi: 10.3390/cancers14235733. Cancers (Basel). 2022. PMID: 36497215 Free PMC article. Review.
77 results