Salviati L - Search Results

1

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Doimo M, Trevisson E, Sartori G, Burlina A, Salviati L. Doimo M, et al. Among authors: salviati l. J Inherit Metab Dis. 2012 May;35(3):557-8. doi: 10.1007/s10545-011-9402-9. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231378 No abstract available.

2

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.

3

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

4

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

5

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.

6

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

7

A functionally dominant mitochondrial DNA mutation.

Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. Sacconi S, et al. Among authors: salviati l. Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12. Hum Mol Genet. 2008. PMID: 18337306 Free PMC article.

8

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P, Salviati L. Casarin A, et al. Among authors: salviati l. Biochem Biophys Res Commun. 2008 Jul 18;372(1):35-9. doi: 10.1016/j.bbrc.2008.04.172. Epub 2008 May 12. Biochem Biophys Res Commun. 2008. PMID: 18474229 Free PMC article.

9

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A. Trevisson E, et al. Among authors: salviati l. Hum Genet. 2008 Oct;124(3):303. Hum Genet. 2008. PMID: 18846631 No abstract available.

10

Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.

Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A. Trevisson E, et al. Among authors: salviati l. Hum Genet. 2008 Oct;124(3):303. Hum Genet. 2008. PMID: 18846632 No abstract available.

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