Publicaciones en colaboración con investigadores/as de Universidad Europea de Madrid (29)

2022

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

    Genes, Vol. 13, Núm. 10

2018

  1. Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

    Medicine and Science in Sports and Exercise, Vol. 50, Núm. 6, pp. 1142-1151

  2. Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

    Journal of Physiology, Vol. 596, Núm. 6, pp. 1035-1061

2017

  1. Muscle fiber type proportion and size is not altered in mcardle disease

    Muscle and Nerve, Vol. 55, Núm. 6, pp. 916-918

2016

  1. Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry

    Clinical Nutrition, Vol. 35, Núm. 6, pp. 1484-1489

2009

  1. C34T mutation of the AMPD1 gene in an elite white runner

    BMJ Case Reports

  2. Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?

    Neuromuscular Disorders, Vol. 19, Núm. 3, pp. 220-222

  3. Genotype distributions in top-level soccer players: A role for ace ?

    International Journal of Sports Medicine, Vol. 30, Núm. 5, pp. 387-392

  4. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

    Journal of Medical Genetics, Vol. 46, Núm. 3, pp. 198-202

  5. The second wind phenomenon in very young McArdle's patients

    Neuromuscular Disorders, Vol. 19, Núm. 6, pp. 403-405

2008

  1. AMPD1 genotypes and exercise capacity in McArdle patients

    International Journal of Sports Medicine, Vol. 29, Núm. 4, pp. 331-335

  2. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: The role of nonsense-mediated mRNA decay

    Human Mutation, Vol. 29, Núm. 2, pp. 277-283

  3. McArdle disease: Another systemic low-inflammation disorder?

    Neuroscience Letters, Vol. 431, Núm. 2, pp. 106-111

  4. McArdle disease: What do neurologists need to know?

    Nature Clinical Practice Neurology, Vol. 4, Núm. 10, pp. 568-577

  5. One-Year Follow-Up in a Child With McArdle Disease: Exercise is Medicine

    Pediatric Neurology, Vol. 38, Núm. 2, pp. 133-136

  6. 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

  7. What isn't taught in medical schools: The William Wordsworth lesson

    Nature Clinical Practice Cardiovascular Medicine, Vol. 5, Núm. 7, pp. 372-374

2007

  1. Can patients with McArdle's disease run?

    British Journal of Sports Medicine, Vol. 41, Núm. 1, pp. 53-54

  2. Double trouble (McArdle's disease and myasthenia gravis): How can exercise help?

    Muscle and Nerve, Vol. 35, Núm. 1, pp. 125-128

  3. Exercise capacity in a child with McArdle disease

    Journal of Child Neurology, Vol. 22, Núm. 7, pp. 880-882