Vilageliu L - Search Results

1

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

2

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.

3

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

4

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.

5

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. Malekkou A, et al. Among authors: vilageliu l. Mol Genet Genomic Med. 2020 Mar;8(3):e1090. doi: 10.1002/mgg3.1090. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943857 Free PMC article.

6

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.

Michelakakis H, Moraitou M, Dimitriou E, Santamaria R, Sanchez G, Gort L, Chabas A, Grinberg D, Dassopoulou M, Fotopoulos S, Vilageliu L. Michelakakis H, et al. Among authors: vilageliu l. J Inherit Metab Dis. 2006 Aug;29(4):591. doi: 10.1007/s10545-006-0316-x. Epub 2006 Jul 8. J Inherit Metab Dis. 2006. PMID: 16830265

7

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

8

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.

9

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.

Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Díaz-Font A, et al. Among authors: vilageliu l. Hum Genet. 2003 Apr;112(4):426-9. doi: 10.1007/s00439-002-0894-0. Epub 2003 Feb 14. Hum Genet. 2003. PMID: 12589426

10

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. Diaz-Font A, et al. Among authors: vilageliu l. Hum Genet. 2005 Jul;117(2-3):275-7. doi: 10.1007/s00439-005-1288-x. Epub 2005 Apr 23. Hum Genet. 2005. PMID: 15856305

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