Welcome to the UPF Digital Repository

Browsing by Author "Borralleras Fumaña, Cristina, 1988-"

Browsing by Author "Borralleras Fumaña, Cristina, 1988-"

Sort by: Order: Results:

  • Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model
    Ortiz Romero, Paula, 1994-; Borralleras Fumaña, Cristina, 1988-; Bosch Morató, Mònica, 1986-; Guivernau Almazán, Biuse, 1988-; Albericio, Guillermo; Muñoz López, Francisco José, 1964-; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (Public Library of Science (PLoS), 2018)
    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. The complete deletion (CD) mouse model mimics the most common deletion found in ...
  • Intracisternal Gtf2igene therapy ameliorates deficits in cognition and synaptic plasticity of a mouse model of Williams-Beuren Syndrome
    Borralleras Fumaña, Cristina, 1988-; Sahún, Ignasi; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (Nature Publishing Group, 2015)
    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral ...
  • Metabolic abnormalities in Williams-Beuren syndrome
    Palacios Verdú, María Gabriela, 1983-; Segura Puimedon, Maria, 1985-; Borralleras Fumaña, Cristina, 1988-; Flores, Raquel; Campo Casanelles, Miguel del, 1966-; Campuzano Uceda, María Victoria; Pérez Jurado, Luis Alberto (BMJ, 2015)
    BACKGROUND: Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic ...
  • Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome
    Borralleras Fumaña, Cristina, 1988-; Mato, Susana; Amédée, Thierry; Matute, Carlos; Mulle, Christophe; Pérez Jurado, Luis Alberto; Campuzano Uceda, María Victoria (BioMed Central, 2016)
    Mice heterozygous for a complete deletion (CD) equivalent to the most common deletion found in individuals with Williams-Beuren syndrome (WBS) recapitulate relevant features of the neurocognitive phenotype, such as ...

Search DSpace

Browse

My Account

In collaboration with Compliant to Partaking