Salviati L - Search Results

1

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L. Trevisson E, et al. Among authors: salviati l. J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24. J Biol Chem. 2009. PMID: 19703900 Free PMC article.

2

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G. Salviati L, et al. Neurology. 2005 Aug 23;65(4):606-8. doi: 10.1212/01.wnl.0000172859.55579.a7. Neurology. 2005. PMID: 16116126

3

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. Quinzii C, et al. Among authors: salviati l. Am J Hum Genet. 2006 Feb;78(2):345-9. doi: 10.1086/500092. Epub 2005 Dec 22. Am J Hum Genet. 2006. PMID: 16400613 Free PMC article.

4

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

Martella M, Salviati L, Casarin A, Trevisson E, Opocher G, Polli R, Gross D, Murgia A. Martella M, et al. Among authors: salviati l. J Hum Genet. 2006;51(11):964-968. doi: 10.1007/s10038-006-0054-9. Epub 2006 Sep 28. J Hum Genet. 2006. PMID: 17006605

5

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A. Salviati L, et al. Neurogenetics. 2007 Jan;8(1):57-60. doi: 10.1007/s10048-006-0065-x. Epub 2006 Oct 10. Neurogenetics. 2007. PMID: 17031678

6

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB. Trevisson E, et al. Among authors: salviati l. Hum Mutat. 2007 Jul;28(7):694-702. doi: 10.1002/humu.20498. Hum Mutat. 2007. PMID: 17326097

7

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P. López-Martín JM, et al. Among authors: salviati l. Hum Mol Genet. 2007 May 1;16(9):1091-7. doi: 10.1093/hmg/ddm058. Epub 2007 Mar 20. Hum Mol Genet. 2007. PMID: 17374725 Free PMC article.

8

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP. Sartori S, et al. Among authors: salviati l. Eur J Paediatr Neurol. 2008 Jul;12(4):348-50. doi: 10.1016/j.ejpn.2007.07.011. Epub 2007 Sep 18. Eur J Paediatr Neurol. 2008. PMID: 17881259

9

LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.

Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L. Dimmer KS, et al. Among authors: salviati l. Hum Mol Genet. 2008 Jan 15;17(2):201-14. doi: 10.1093/hmg/ddm297. Epub 2007 Oct 9. Hum Mol Genet. 2008. PMID: 17925330

10

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Montero R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, García-Cazorla A, Navas P, Artuch R. Montero R, et al. Among authors: salviati l. Clin Biochem. 2008 Jun;41(9):697-700. doi: 10.1016/j.clinbiochem.2008.03.007. Epub 2008 Mar 20. Clin Biochem. 2008. PMID: 18387363

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