Valente L - Search Results

1

The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.

Valente L, Shigi N, Suzuki T, Zeviani M. Valente L, et al. Biochim Biophys Acta. 2009 Aug;1792(8):791-5. doi: 10.1016/j.bbadis.2009.06.002. Epub 2009 Jun 12. Biochim Biophys Acta. 2009. PMID: 19524667 Free article.

2

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V. Valente L, et al. Biochim Biophys Acta. 2009 May;1787(5):491-501. doi: 10.1016/j.bbabio.2008.10.001. Epub 2008 Oct 15. Biochim Biophys Acta. 2009. PMID: 18977334 Free article.

3

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Fernandez-Vizarra E, et al. Among authors: valente l. J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056637 Free PMC article.

4

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. 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.

5

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Fernandez-Vizarra E, et al. Among authors: valente l. BMJ Case Rep. 2009;2009:bcr05.2009.1889. doi: 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9. BMJ Case Rep. 2009. PMID: 21686963 Free PMC article.

6

Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.

Vergani L, Malena A, Sabatelli P, Loro E, Cavallini L, Magalhaes P, Valente L, Bragantini F, Carrara F, Leger B, Poulton J, Russell AP, Holt IJ. Vergani L, et al. Among authors: valente l. Brain. 2007 Oct;130(Pt 10):2715-24. doi: 10.1093/brain/awm151. Epub 2007 Jul 11. Brain. 2007. PMID: 17626036

7

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

Rodenburg RJ, Schoonderwoerd GC, Tiranti V, Taylor RW, Rötig A, Valente L, Invernizzi F, Chretien D, He L, Backx GP, Janssen KJ, Chinnery PF, Smeets HJ, de Coo IF, van den Heuvel LP. Rodenburg RJ, et al. Among authors: valente l. Mitochondrion. 2013 Jan;13(1):36-43. doi: 10.1016/j.mito.2012.11.004. Epub 2012 Nov 17. Mitochondrion. 2013. PMID: 23164799 Free PMC article.

8

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy.

Floreani M, Napoli E, Martinuzzi A, Pantano G, De Riva V, Trevisan R, Bisetto E, Valente L, Carelli V, Dabbeni-Sala F. Floreani M, et al. Among authors: valente l. FEBS J. 2005 Mar;272(5):1124-35. doi: 10.1111/j.1742-4658.2004.04542.x. FEBS J. 2005. PMID: 15720387 Free article.

9

Antioxidant defences and homeostasis of reactive oxygen species in different human mitochondrial DNA-depleted cell lines.

Vergani L, Floreani M, Russell A, Ceccon M, Napoli E, Cabrelle A, Valente L, Bragantini F, Leger B, Dabbeni-Sala F. Vergani L, et al. Among authors: valente l. Eur J Biochem. 2004 Sep;271(18):3646-56. doi: 10.1111/j.1432-1033.2004.04298.x. Eur J Biochem. 2004. PMID: 15355341 Free article.

10

Phenotype modulators in myophosphorylase deficiency.

Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Among authors: valente l. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117

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