Pérez-Jurado LA - Search Results

1

Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome.

Borralleras C, Mato S, Amédée T, Matute C, Mulle C, Pérez-Jurado LA, Campuzano V. Borralleras C, et al. Mol Brain. 2016 Aug 2;9(1):76. doi: 10.1186/s13041-016-0258-7. Mol Brain. 2016. PMID: 27485321 Free PMC article.

2

[Williams syndrome: its clinical aspects and molecular bases].

Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. Antonell A, et al. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Rev Neurol. 2006. PMID: 16506136 Free article. Review. Spanish.

3

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA. Cuscó I, et al. Genome Res. 2008 May;18(5):683-94. doi: 10.1101/gr.073197.107. Epub 2008 Feb 21. Genome Res. 2008. PMID: 18292220 Free PMC article.

4

Essential role of the N-terminal region of TFII-I in viability and behavior.

Lucena J, Pezzi S, Aso E, Valero MC, Carreiro C, Dubus P, Sampaio A, Segura M, Barthelemy I, Zindel MY, Sousa N, Barbero JL, Maldonado R, Pérez-Jurado LA, Campuzano V. Lucena J, et al. BMC Med Genet. 2010 Apr 19;11:61. doi: 10.1186/1471-2350-11-61. BMC Med Genet. 2010. PMID: 20403157 Free PMC article.

5

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA. Campuzano V, et al. PLoS Genet. 2012 Feb;8(2):e1002458. doi: 10.1371/journal.pgen.1002458. Epub 2012 Feb 2. PLoS Genet. 2012. PMID: 22319452 Free PMC article.

6

TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif.

Segura-Puimedon M, Borralleras C, Pérez-Jurado LA, Campuzano V. Segura-Puimedon M, et al. Gene. 2013 Sep 25;527(2):529-36. doi: 10.1016/j.gene.2013.06.050. Epub 2013 Jul 3. Gene. 2013. PMID: 23831514

7

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, Valero MC, Valverde O, Sousa N, Herault Y, Dierssen M, Pérez-Jurado LA, Campuzano V. Segura-Puimedon M, et al. Hum Mol Genet. 2014 Dec 15;23(24):6481-94. doi: 10.1093/hmg/ddu368. Epub 2014 Jul 15. Hum Mol Genet. 2014. PMID: 25027326

8

Lateral preference in Williams-Beuren syndrome is associated with cognition and language.

Pérez-García D, Flores R, Brun-Gasca C, Pérez-Jurado LA. Pérez-García D, et al. Eur Child Adolesc Psychiatry. 2015 Sep;24(9):1025-33. doi: 10.1007/s00787-014-0652-6. Epub 2014 Nov 28. Eur Child Adolesc Psychiatry. 2015. PMID: 25431039

9

Metabolic abnormalities in Williams-Beuren syndrome.

Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA. Palacios-Verdú MG, et al. J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. J Med Genet. 2015. PMID: 25663682

10

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.

Borralleras C, Sahun I, Pérez-Jurado LA, Campuzano V. Borralleras C, et al. Mol Ther. 2015 Nov;23(11):1691-1699. doi: 10.1038/mt.2015.130. Epub 2015 Jul 28. Mol Ther. 2015. PMID: 26216516 Free PMC article.

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