Centro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (14)

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

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. Physical activity levels are low in patients with pulmonary hypertension

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

2009

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

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

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

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

2008

  1. 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

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

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

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

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

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

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

  5. 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

2007

  1. Exercise capacity in a child with McArdle disease

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

  2. Favorable responses to acute and chronic exercise in McArdle patients

    Clinical Journal of Sport Medicine, Vol. 17, Núm. 4, pp. 297-303

  3. Genotype modulators of clinical severity in McArdle disease

    Neuroscience Letters, Vol. 422, Núm. 3, pp. 217-222

  4. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease

    Neuromuscular Disorders, Vol. 17, Núm. 8, pp. 603-610