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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
Reduced synthesis of mtRNA in isolated mitochondria of senescent rat brain.
Fernandez-Silva P, Petruzzella V, Fracasso F, Gadaleta MN, Cantatore P. Fernandez-Silva P, et al. Among authors: petruzzella v. Biochem Biophys Res Commun. 1991 Apr 30;176(2):645-53. doi: 10.1016/s0006-291x(05)80233-5. Biochem Biophys Res Commun. 1991. PMID: 1709016
Mitochondrial dysfunction as a mechanism of CNS injury.
DiMauro S, Simonetti S, Chen X, Petruzzella V, Hirano M, Shanske S, Moraes CT, Schon EA. DiMauro S, et al. Among authors: petruzzella v. Res Publ Assoc Res Nerv Ment Dis. 1993;71:67-79. Res Publ Assoc Res Nerv Ment Dis. 1993. PMID: 8417473 Review. No abstract available.
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.
Author Response: Increased mtDNA Copy Number Protects Against LHON.
Bianco A, Palese LL, Guerriero S, Petruzzella V. Bianco A, et al. Among authors: petruzzella v. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):331. doi: 10.1167/iovs.17-22822. Invest Ophthalmol Vis Sci. 2018. PMID: 29346492 No abstract available.
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