Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (11)

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. 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

2006

  1. Exercise capacity in a 78 year old patient with McArdle's disease: It is never too late to start exercising

    British Journal of Sports Medicine, Vol. 40, Núm. 8, pp. 725-726

  2. Novel mutation in the PYGM gene resulting in McArdle disease

    Archives of Neurology, Vol. 63, Núm. 12, pp. 1782-1784