Publicacions en col·laboració amb investigadors/es de University Medical Center Hamburg-Eppendorf (11)

2022

  1. Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

    Nature Communications, Vol. 13, Núm. 1

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  2. Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

    EMBO Molecular Medicine, Vol. 13, Núm. 10

2020

  1. A Localized Scaffold for cGMP Increase Is Required for Apical Dendrite Development

    Cell Reports, Vol. 31, Núm. 2

  2. Functional hypoxia drives neuroplasticity and neurogenesis via brain erythropoietin

    Nature Communications, Vol. 11, Núm. 1

2011

  1. The polysialylated form of the neural cell adhesion molecule (PSA-NCAM) is expressed in a subpopulation of mature cortical interneurons characterized by reduced structural features and connectivity

    Cerebral Cortex, Vol. 21, Núm. 5, pp. 1028-1041

2007

  1. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation

    European Journal of Human Genetics, Vol. 15, Núm. 1, pp. 29-34

2006

  1. The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody

    Genomics, Vol. 87, Núm. 2, pp. 243-253

2004

  1. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

    Genomics, Vol. 84, Núm. 1, pp. 69-81

2002

  1. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: Implications for recombinations in this region

    Genomics, Vol. 80, Núm. 3, pp. 259-267

  2. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

    Human Molecular Genetics, Vol. 11, Núm. 9, pp. 1119-1128