Tiranti V - Search Results

1

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Among authors: tiranti v. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.

2

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M. Tiranti V, et al. Hum Mol Genet. 1995 Aug;4(8):1421-7. doi: 10.1093/hmg/4.8.1421. Hum Mol Genet. 1995. PMID: 7581383

3

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.

Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R, Zeviani M. Tiranti V, et al. Hum Mol Genet. 1995 Nov;4(11):2017-23. doi: 10.1093/hmg/4.11.2017. Hum Mol Genet. 1995. PMID: 8589677

4

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.

Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M, Zeviani M. Tiranti V, et al. Hum Mol Genet. 1997 Apr;6(4):615-25. doi: 10.1093/hmg/6.4.615. Hum Mol Genet. 1997. PMID: 9097968

5

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M. Agostino A, et al. Among authors: tiranti v. Hum Mol Genet. 2003 Feb 15;12(4):399-413. doi: 10.1093/hmg/ddg038. Hum Mol Genet. 2003. PMID: 12566387

6

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M. Agostino A, et al. Among authors: tiranti v. Neurology. 2003 Apr 22;60(8):1354-6. doi: 10.1212/01.wnl.0000056088.09408.3c. Neurology. 2003. PMID: 12707443

7

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.

8

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. Fontanesi F, et al. Among authors: tiranti v. Hum Mol Genet. 2004 May 1;13(9):923-34. doi: 10.1093/hmg/ddh108. Epub 2004 Mar 11. Hum Mol Genet. 2004. PMID: 15016764

9

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Valente L, et al. Among authors: tiranti v. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160893 Free PMC article.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

147 results

Search Page

Filters