Grinberg D - Search Results

1

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H. Mavridou I, et al. Among authors: grinberg d. Clin Genet. 2014 Jun;85(6):543-7. doi: 10.1111/cge.12200. Epub 2013 Jun 12. Clin Genet. 2014. PMID: 23701245

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: grinberg d. 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

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: grinberg d. 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

4

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.

Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Rodríguez-Pascau L, et al. Among authors: grinberg d. Hum Mutat. 2009 Nov;30(11):E993-E1001. doi: 10.1002/humu.21119. Hum Mutat. 2009. PMID: 19718781

5

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: grinberg d. 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

6

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Rodríguez-Pascau L, et al. Among authors: grinberg d. Mol Genet Metab. 2012 Dec;107(4):716-20. doi: 10.1016/j.ymgme.2012.10.004. Epub 2012 Oct 14. Mol Genet Metab. 2012. PMID: 23142039

7

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: grinberg d. JIMD Rep. 2016;25:57-64. doi: 10.1007/8904_2015_457. Epub 2015 Jun 25. JIMD Rep. 2016. PMID: 26108647 Free PMC article.

8

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.

Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L, Grinberg D. Gómez-Grau M, et al. Among authors: grinberg d. Sci Rep. 2017 Feb 7;7:41931. doi: 10.1038/srep41931. Sci Rep. 2017. PMID: 28167839 Free PMC article.

9

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: grinberg d. 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.

10

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group. Macías-Vidal J, et al. Among authors: grinberg d. Clin Genet. 2011 Jul;80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6. Clin Genet. 2011. PMID: 20718790

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