Vilageliu L - Search Results

1

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Dimitriou E, Cozar M, Mavridou I, Grinberg D, Vilageliu L, Michelakakis H. Dimitriou E, et al. Among authors: vilageliu l. JIMD Rep. 2016;25:57-64. doi: 10.1007/8904_2015_457. Epub 2015 Jun 25. JIMD Rep. 2016. PMID: 26108647 Free PMC article.

2

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg D, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D, Michelakakis H. Mavridou I, et al. Among authors: vilageliu l. JIMD Rep. 2017;36:41-48. doi: 10.1007/8904_2016_41. Epub 2017 Jan 20. JIMD Rep. 2017. PMID: 28105569 Free PMC article.

3

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Dimitriou E, et al. Among authors: vilageliu l. Mol Genet Metab Rep. 2020 Jun 7;24:100614. doi: 10.1016/j.ymgmr.2020.100614. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32547927 Free PMC article.

4

Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference.

Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. Rodríguez-Pascau L, et al. Among authors: vilageliu l. JIMD Rep. 2012;4:29-37. doi: 10.1007/8904_2011_64. Epub 2011 Nov 1. JIMD Rep. 2012. PMID: 23430894 Free PMC article.

5

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Serra-Vinardell J, Díaz L, Gutiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J. Serra-Vinardell J, et al. Among authors: vilageliu l. Int J Biochem Cell Biol. 2014 Sep;54:245-54. doi: 10.1016/j.biocel.2014.07.017. Epub 2014 Jul 30. Int J Biochem Cell Biol. 2014. PMID: 25084554

6

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.

Canals I, Benetó N, Cozar M, Vilageliu L, Grinberg D. Canals I, et al. Among authors: vilageliu l. Sci Rep. 2015 Sep 8;5:13654. doi: 10.1038/srep13654. Sci Rep. 2015. PMID: 26347037 Free PMC article.

7

Involvement of Gaucher Disease Mutations in Parkinson Disease.

Vilageliu L, Grinberg D. Vilageliu L, et al. Curr Protein Pept Sci. 2017;18(7):758-764. doi: 10.2174/1389203717666160311115956. Curr Protein Pept Sci. 2017. PMID: 26965692 Review.

8

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: vilageliu l. Hum Mutat. 2008 Jun;29(6):E58-67. doi: 10.1002/humu.20776. Hum Mutat. 2008. PMID: 18429048

9

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A. Cozar M, et al. Among authors: vilageliu l. Mol Genet Metab. 2011 Feb;102(2):226-8. doi: 10.1016/j.ymgme.2010.10.004. Epub 2010 Oct 29. Mol Genet Metab. 2011. PMID: 21036086

10

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.

Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H. Moraitou M, et al. Among authors: vilageliu l. Mol Genet Metab. 2011 Sep-Oct;104(1-2):149-52. doi: 10.1016/j.ymgme.2011.06.015. Epub 2011 Jun 24. Mol Genet Metab. 2011. PMID: 21745757

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