Salviati L - Search Results

1

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.

Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. Spinazzi M, et al. Among authors: salviati l. Hum Mol Genet. 2008 Nov 1;17(21):3291-302. doi: 10.1093/hmg/ddn225. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678599

2

Acute quadriplegic myopathy in a 17-month-old boy.

Salviati L, Laverda AM, Zancan L, Fanin M, Angelini C, Meznaric-Petrusa M. Salviati L, et al. J Child Neurol. 2000 Jan;15(1):63-6. doi: 10.1177/088307380001500115. J Child Neurol. 2000. PMID: 10641615

3

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

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

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

6

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

7

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.

8

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.

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: 18846632 No abstract available.

10

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.

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