Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (42)

2024

  1. Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

    Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700

  2. Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice

    Medicine and Science in Sports and Exercise

  3. Worldwide distribution of genetic factors related to severity of COVID-19 infection

    Annals of Human Biology, Vol. 51, Núm. 1

2023

  1. Combined exercise intervention in a mouse model of high-risk neuroblastoma: effects on physical, immune, tumor and clinical outcomes

    Exercise immunology review, Vol. 29, pp. 86-110

  2. Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

    Journal of Physiology, Vol. 601, Núm. 3, pp. 551-566

  3. Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse

    International Journal of Molecular Sciences, Vol. 24, Núm. 13

2022

  1. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

    Genes, Vol. 13, Núm. 10

  2. Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

    Molecular metabolism, Vol. 66, pp. 101648

2020

  1. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

    Human Mutation, Vol. 41, Núm. 2, pp. 420-431

  2. Absence of p.R50X Pygm read-through in McArdle disease cellular models

    DMM Disease Models and Mechanisms, Vol. 13, Núm. 1

  3. Novel ndufa13 mutations associated with oxphos deficiency and leigh syndrome: A second family report

    Genes, Vol. 11, Núm. 8, pp. 1-13

  4. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models

    International Journal of Molecular Sciences, Vol. 21, Núm. 24, pp. 1-50

2019

  1. Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

    Scientific Reports, Vol. 9, 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

  2. Missense mutations have unexpected consequences: The McArdle disease paradigm

    Human Mutation, Vol. 39, Núm. 10, pp. 1338-1343

  3. Physical activity levels are low in patients with pulmonary hypertension

    Annals of Translational Medicine, Vol. 6, Núm. 11, pp. 205-205

2017

  1. A comparative study of drug delivery methods targeted to the mouse inner ear: Bullostomy Versus transtympanic injection

    Journal of Visualized Experiments, Vol. 2017, Núm. 121

  2. Cochlear homocysteine metabolism at the crossroad of nutrition and sensorineural hearing loss

    Frontiers in Molecular Neuroscience, Vol. 10

2016

  1. Beta-3 adrenergic agonists reduce pulmonary vascular resistance and improve right ventricular performance in a porcine model of chronic pulmonary hypertension

    Basic Research in Cardiology, Vol. 111, Núm. 4

2015

  1. Long-term omega-3 fatty acid supplementation prevents expression changes in cochlear homocysteine metabolism and ameliorates progressive hearing loss in C57BL/6J mice

    Journal of Nutritional Biochemistry, Vol. 26, Núm. 12, pp. 1424-1433