Tiranti V - Search Results

1

Classification and molecular pathogenesis of NBIA syndromes.

Di Meo I, Tiranti V. Di Meo I, et al. Among authors: tiranti v. Eur J Paediatr Neurol. 2018 Mar;22(2):272-284. doi: 10.1016/j.ejpn.2018.01.008. Epub 2018 Jan 17. Eur J Paediatr Neurol. 2018. PMID: 29409688 Review.

2

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Mineri R, et al. Among authors: tiranti v. J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271. J Med Genet. 2008. PMID: 18593870

3

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Tiranti V, et al. Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11. Nat Med. 2009. PMID: 19136963

4

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V. Drousiotou A, et al. Among authors: tiranti v. Clin Genet. 2011 Apr;79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x. Clin Genet. 2011. PMID: 20528888

5

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.

Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V. Di Meo I, et al. Among authors: tiranti v. Antioxid Redox Signal. 2011 Jul 15;15(2):353-62. doi: 10.1089/ars.2010.3520. Epub 2011 Feb 25. Antioxid Redox Signal. 2011. PMID: 20812865

6

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G, Zeviani M. Giordano C, et al. Among authors: tiranti v. J Inherit Metab Dis. 2012 May;35(3):451-8. doi: 10.1007/s10545-011-9408-3. Epub 2011 Oct 22. J Inherit Metab Dis. 2012. PMID: 22020834

7

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V. Leoni V, et al. Among authors: tiranti v. Mol Genet Metab. 2012 Mar;105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. Epub 2011 Dec 14. Mol Genet Metab. 2012. PMID: 22221393 Free PMC article.

8

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, Brunetti D, Chiapparini L, Zibordi F, Siegel B, Garavaglia B, Simonati A, Bertini E, Nardocci N, Tiranti V. Panteghini C, et al. Among authors: tiranti v. Semin Pediatr Neurol. 2012 Jun;19(2):75-81. doi: 10.1016/j.spen.2012.03.006. Semin Pediatr Neurol. 2012. PMID: 22704260

9

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.

Venco P, Dusi S, Valletta L, Tiranti V. Venco P, et al. Among authors: tiranti v. Biochem Soc Trans. 2014 Aug;42(4):1069-74. doi: 10.1042/BST20140106. Biochem Soc Trans. 2014. PMID: 25110004 Review.

10

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.

Colombelli C, Aoun M, Tiranti V. Colombelli C, et al. Among authors: tiranti v. J Inherit Metab Dis. 2015 Jan;38(1):123-36. doi: 10.1007/s10545-014-9770-z. Epub 2014 Oct 10. J Inherit Metab Dis. 2015. PMID: 25300979 Review.

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