Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (37)

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

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

2021

  1. Molecular basis of ndt‐mediated activation of nucleoside‐ based prodrugs and application in suicide gene therapy

    Biomolecules, Vol. 11, Núm. 1, pp. 1-12

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

2015

  1. Sodium valproate increases the brain isoform of glycogen phosphorylase: Looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

    DMM Disease Models and Mechanisms, Vol. 8, Núm. 5, pp. 467-472

  2. The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications

    Journal of Inherited Metabolic Disease, Vol. 38, Núm. 2, pp. 221-230

2014

  1. PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?

    Neuromuscular Disorders, Vol. 24, Núm. 12, pp. 1079-1086

  2. The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts

    Age, Vol. 36, Núm. 2, pp. 933-943

2013

  1. Association of the K153R polymorphism in the myostatin gene and extreme longevity

    Age, Vol. 35, Núm. 6, pp. 2445-2454