Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (14)

2023

  1. Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions

    PLoS ONE, Vol. 18, Núm. 9 September

  2. The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages

    iScience, Vol. 26, Núm. 8

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

2018

  1. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

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

  3. The role of endoglin in post-ischemic revascularization

    Angiogenesis, Vol. 20, Núm. 1

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

2013

  1. Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

    Neurobiology of Disease, Vol. 55, pp. 140-151

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

2010

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

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

2008

  1. Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement

    Journal of Investigative Dermatology, Vol. 128, Núm. 6, pp. 1565-1575

  2. Room temperature storage of cultured human articular chondrocytes

    Cell Preservation Technology, Vol. 6, Núm. 3, pp. 199-206