Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (13)

2023

  1. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

  2. P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease

    Neurobiology of Disease, Vol. 177

  3. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

2020

  1. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

2019

  1. DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway

    Diabetologia, Vol. 62, Núm. 3, pp. 459-472

  2. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Exercise benefits in cardiovascular disease: beyond attenuation of traditional risk factors

    Nature Reviews Cardiology, Vol. 15, Núm. 12, pp. 731-743

2015

  1. Erratum to: "Fibroblast viability and phenotypic changes within glycated stiffened three-dimensional collagen matrices" [Respir Res., 2015; 16:82].

    Respiratory Research

2012

  1. Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

    Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 983-990

2010

  1. Multiple E2F-induced microRNAs prevent replicative stress in response to mitogenic signaling

    Molecular and Cellular Biology, Vol. 30, Núm. 12, pp. 2983-2995

2009

  1. ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation

    European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69

2008

  1. Genética del seudohipoparatiroidismo: Bases para el consejo genético

    Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483

  2. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712