Publikationen in Zusammenarbeit mit Forschern von Universitat Autònoma de Barcelona (53)

2024

  1. Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

    Clinical Nutrition, Vol. 43, Núm. 3, pp. 692-700

  2. Dose–response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease

    Journal of Sport and Health Science

2023

  1. Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  2. Measuring optimal psychological states: Proposal of two brief versions to measure flow and clutch in athletes

    Frontiers in Psychology, Vol. 14

  3. Mujeres y deporte en España: avances y desafíos hacia la igualdad

    Sociología del deporte (Dykinson), pp. 21-42

  4. Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

    Journal of Physiology, Vol. 601, Núm. 3, pp. 551-566

  5. Sex Differences in the Association between Risk of Anterior Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers

    Genes, Vol. 14, Núm. 1

2022

  1. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

    International Journal of Molecular Sciences, Vol. 23, Núm. 9

  2. Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

    Medicine and science in sports and exercise, Vol. 54, Núm. 8, pp. 1231-1241

  3. Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

    Molecular metabolism, Vol. 66, pp. 101648

  4. Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

    Genes, Vol. 13, Núm. 1

2021

  1. The Second Wind in McArdle Patients: Fitness Matters

    Frontiers in Physiology, Vol. 12

2020

  1. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

    Human Mutation, Vol. 41, Núm. 2, pp. 420-431

  2. Absence of p.R50X Pygm read-through in McArdle disease cellular models

    DMM Disease Models and Mechanisms, Vol. 13, Núm. 1

  3. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  4. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  5. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models

    International Journal of Molecular Sciences, Vol. 21, Núm. 24, pp. 1-50

  6. Preliminary findings on ctg expansion determination in different tissues from patients with myotonic dystrophy type 1

    Genes, Vol. 11, Núm. 11, pp. 1-8

  7. Sex differences and the influence of an active lifestyle on adiposity in patients with mcardle disease

    International Journal of Environmental Research and Public Health, Vol. 17, Núm. 12, pp. 1-11

  8. The Influence of Basic Psychological Needs and Passion in Promoting Elite Young Football Players’ Development

    Frontiers in Psychology, Vol. 11