Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (21)

2018

  1. 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

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. Mutaciones privadas en el gen de la miofosforilasa: Primer caso en un paciente de origen latinoamericano

    Revista de Neurologia, Vol. 45, Núm. 5, pp. 280-283

  5. 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

2005

  1. Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA

    FEBS Letters, Vol. 579, Núm. 30, pp. 6909-6913

  2. Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE

    Neuromuscular Disorders, Vol. 15, Núm. 11, pp. 775-778

  3. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

    Archives of Neurology, Vol. 62, Núm. 4, pp. 659-661

  4. Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene

    Neuroscience Letters, Vol. 391, Núm. 1-2, pp. 28-31

2004

  1. Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE

    Neurology, Vol. 63, Núm. 8, pp. 1536-1537

  2. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease

    Annals of Human Genetics, Vol. 68, Núm. 1, pp. 17-22

2003

  1. Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

    Neurology, Vol. 61, Núm. 10, pp. 1432-1434

  2. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

    Muscle and Nerve, Vol. 28, Núm. 3, pp. 380-382