Cozar M - Search Results

1

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Urreizti R, et al. Among authors: cozar m. Clin Genet. 2010 Nov;78(5):441-8. doi: 10.1111/j.1399-0004.2010.01391.x. Clin Genet. 2010. PMID: 20236116

2

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Díaz-Font A, et al. Among authors: cozar m. Mol Genet Metab. 2005 Sep-Oct;86(1-2):206-11. doi: 10.1016/j.ymgme.2005.07.004. Mol Genet Metab. 2005. PMID: 16125993

3

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Urreizti R, et al. Among authors: cozar m. Hum Mutat. 2006 Feb;27(2):211. doi: 10.1002/humu.9395. Hum Mutat. 2006. PMID: 16429402

4

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. 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

5

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S. Cozar M, et al. Hum Mutat. 2011 Jul;32(7):835-42. doi: 10.1002/humu.21514. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520339 Free article.

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: cozar m. 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

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: cozar m. Clin Genet. 2014 Jun;85(6):543-7. doi: 10.1111/cge.12200. Epub 2013 Jun 12. Clin Genet. 2014. PMID: 23701245

8

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA. Cammarata-Scalisi F, et al. Among authors: cozar m. Arch Argent Pediatr. 2015 Apr;113(2):e109-12. doi: 10.5546/aap.2015.e109. Arch Argent Pediatr. 2015. PMID: 25727835 Free article. Spanish.

9

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

10

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Gómez-Grau M, et al. Among authors: cozar m. PLoS One. 2015 Aug 19;10(8):e0135873. doi: 10.1371/journal.pone.0135873. eCollection 2015. PLoS One. 2015. PMID: 26287674 Free PMC article.

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