Tiranti V - Search Results

1

Modeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids.

Tolle I, Tiranti V, Prigione A. Tolle I, et al. Among authors: tiranti v. EMBO Rep. 2023 Apr 5;24(4):e55678. doi: 10.15252/embr.202255678. Epub 2023 Mar 6. EMBO Rep. 2023. PMID: 36876467 Free PMC article. Review.

2

Leigh syndrome transmitted by uniparental disomy of chromosome 9.

Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Fried M. Tiranti V, et al. J Med Genet. 1999 Dec;36(12):927-8. J Med Genet. 1999. PMID: 10636738 Free PMC article. No abstract available.

3

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: tiranti v. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.

4

Role of adenine nucleotide translocator 1 in mtDNA maintenance.

Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A. Kaukonen J, et al. Among authors: tiranti v. Science. 2000 Aug 4;289(5480):782-5. doi: 10.1126/science.289.5480.782. Science. 2000. PMID: 10926541

5

Severe infantile hypotonia with ethylmalonic aciduria: case report.

Okuyaz C, Ezgü FS, Biberoglu G, Zeviani M, Tiranti V, Yilgör E. Okuyaz C, et al. Among authors: tiranti v. J Child Neurol. 2008 Jun;23(6):703-5. doi: 10.1177/0883073807313048. J Child Neurol. 2008. PMID: 18539996

6

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP. Napoli L, et al. Among authors: tiranti v. Neurology. 2001 Dec 26;57(12):2295-8. doi: 10.1212/wnl.57.12.2295. Neurology. 2001. PMID: 11756613

7

Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.

Toompuu M, Tiranti V, Zeviani M, Jacobs HT. Toompuu M, et al. Among authors: tiranti v. Hum Mol Genet. 1999 Nov;8(12):2275-83. doi: 10.1093/hmg/8.12.2275. Hum Mol Genet. 1999. PMID: 10545608

8

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E, Pääbo S. Börner GV, et al. Among authors: tiranti v. Hum Mol Genet. 2000 Mar 1;9(4):467-75. doi: 10.1093/hmg/9.4.467. Hum Mol Genet. 2000. PMID: 10699170

9

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.

Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M. Petruzzella V, et al. Among authors: tiranti v. Genomics. 1998 Dec 15;54(3):494-504. doi: 10.1006/geno.1998.5580. Genomics. 1998. PMID: 9878253

10

Phenotypic consequences of a novel SCO2 gene mutation.

Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R. Verdijk RM, et al. Among authors: tiranti v. Am J Med Genet A. 2008 Nov 1;146A(21):2822-7. doi: 10.1002/ajmg.a.32523. Am J Med Genet A. 2008. PMID: 18924171

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