ALEJANDRO
LUCÍA MULAS
Investigador hasta 2008
Miguel Angel
Martín Casanueva
Publicaciones en las que colabora con Miguel Angel Martín Casanueva (26)
2022
2021
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Soluble fms-like tyrosine kinase-1: A potential early predictor of respiratory failure in COVID-19 patients
Clinical Chemistry and Laboratory Medicine
2018
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Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders
Medicine and Science in Sports and Exercise, Vol. 50, Núm. 6, pp. 1142-1151
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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
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Muscle fiber type proportion and size is not altered in mcardle disease
Muscle and Nerve, Vol. 55, Núm. 6, pp. 916-918
2016
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Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry
Clinical Nutrition, Vol. 35, Núm. 6, pp. 1484-1489
2009
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C34T mutation of the AMPD1 gene in an elite white runner
BMJ Case Reports
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Genotype distributions in top-level soccer players: A role for ace ?
International Journal of Sports Medicine, Vol. 30, Núm. 5, pp. 387-392
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 342
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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
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AMPD1 genotypes and exercise capacity in McArdle patients
International Journal of Sports Medicine, Vol. 29, Núm. 4, pp. 331-335
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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
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McArdle disease: Another systemic low-inflammation disorder?
Neuroscience Letters, Vol. 431, Núm. 2, pp. 106-111
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McArdle disease: What do neurologists need to know?
Nature Clinical Practice Neurology, Vol. 4, Núm. 10, pp. 568-577
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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
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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
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Can patients with McArdle's disease run?
British Journal of Sports Medicine, Vol. 41, Núm. 1, pp. 53-54
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Favorable responses to acute and chronic exercise in McArdle patients
Clinical Journal of Sport Medicine, Vol. 17, Núm. 4, pp. 297-303
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Genotype modulators of clinical severity in McArdle disease
Neuroscience Letters, Vol. 422, Núm. 3, pp. 217-222
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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