Miguel Angel Martín Casanueva-rekin lankidetzan egindako argitalpenak (26)

2022

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

    Genes, Vol. 13, Núm. 10

2021

  1. Soluble fms-like tyrosine kinase-1: A potential early predictor of respiratory failure in COVID-19 patients

    Clinical Chemistry and Laboratory Medicine

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

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

  3. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 342

  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

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. 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. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

    Human mutation, Vol. 28, Núm. 2, pp. 203-204

  2. Can patients with McArdle's disease run?

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

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

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

  4. Genotype modulators of clinical severity in McArdle disease

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

  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