Publicaciones en colaboración con investigadores/as de Vall d'Hebron Institut de Recerca (12)

2018

  1. Missense mutations have unexpected consequences: The McArdle disease paradigm

    Human Mutation, Vol. 39, Núm. 10, pp. 1338-1343

2016

  1. Exercise and preexercise nutrition as treatment for McArdle disease

    Medicine and Science in Sports and Exercise, Vol. 48, Núm. 4, pp. 673-679

  2. Genes and exercise intolerance: Insights from McArdle disease

    Physiological Genomics, Vol. 48, Núm. 2, pp. 93-100

  3. Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model

    Medicine and Science in Sports and Exercise, Vol. 48, Núm. 8, pp. 1448-1458

2015

  1. McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

    Human Mutation, Vol. 36, Núm. 7, pp. 669-678

  2. Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014

    Neuromuscular Disorders, Vol. 25, Núm. 9, pp. 739-745

  3. 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. McArdle Disease: A Unique Study Model in Sports Medicine

    Sports Medicine, Vol. 44, Núm. 11, pp. 1531-1544

  2. McArdle disease does not affect skeletal muscle fibre type profiles in humans

    Biology Open, Vol. 3, Núm. 12, pp. 1224-1227

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

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

2012

  1. A transcriptomic approach to search for novel phenotypic regulators in McArdle disease

    PLoS ONE, Vol. 7, Núm. 2

  2. Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease

    Brain, Vol. 135, Núm. 7, pp. 2048-2057