Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (20)

2023

  1. Genetic signature detected in T cell receptors from patients with severe COVID-19

    iScience, Vol. 26, Núm. 10

2020

  1. Sfrp1 deficiency makes retinal photoreceptors prone to degeneration

    Scientific reports, Vol. 10, Núm. 1, pp. 5115

2017

  1. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    Journal of Pediatrics, Vol. 183, pp. 170-177.e1

  2. DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

    Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043

2015

  1. Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

    Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48

2012

  1. Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

    Age, Vol. 34, Núm. 1, pp. 227-233

2011

  1. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics, Vol. 12, Núm. 3, pp. 183-191

  2. Sox2-mediated differential activation of Six3.2 contributes to forebrain patterning

    Development, Vol. 139, Núm. 1, pp. 151-164

2010

  1. Are elite endurance athletes genetically predisposed to lower disease risk?

    Physiological Genomics, Vol. 41, Núm. 1, pp. 82-90

  2. Involvement of ERK1/2, p38 and PI3K in megakaryocytic differentiation of K562 cells

    European Journal of Haematology, Vol. 84, Núm. 5, pp. 430-440

  3. L718P mutation in the membrane-proximal cytoplasmic tail of β3 promotes abnormal αIIbβ3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype

    Haematologica, Vol. 95, Núm. 7, pp. 1158-1166

2009

  1. Cell cycle control of Notch signaling and the functional regionalization of the neuroepithelium during vertebrate neurogenesis

    International Journal of Developmental Biology, Vol. 53, Núm. 7, pp. 895-908

  2. New insights into the expression and role of platelet factor XIII-A

    Journal of Thrombosis and Haemostasis, Vol. 7, Núm. 7, pp. 1184-1191

  3. Possible role for cellular FXIII in monocyte-derived dendritic cell motility

    European Journal of Cell Biology, Vol. 88, Núm. 8, pp. 423-431

2008

  1. Beyond Wnt inhibition: New functions of secreted Frizzled-related proteins in development and disease

    Journal of Cell Science

  2. The / allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease

    British Journal of Sports Medicine, Vol. 42, Núm. 2, pp. 134-140

2007

  1. Favorable responses to acute and chronic exercise in McArdle patients

    Clinical Journal of Sport Medicine, Vol. 17, Núm. 4, pp. 297-303

  2. Genotype modulators of clinical severity in McArdle disease

    Neuroscience Letters, Vol. 422, Núm. 3, pp. 217-222

  3. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease

    Neuromuscular Disorders, Vol. 17, Núm. 8, pp. 603-610