Publicacións en colaboración con investigadores/as de Copenhagen University Hospital (8)

2024

  1. Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey

    Neuromuscular Disorders, Vol. 34, pp. 19-26

  2. First, do no harm: a call to action to improve the evaluation of harms in clinical exercise research

    British Journal of Sports Medicine

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. Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients

    Neuromuscular Disorders, Vol. 33, Núm. 7, pp. 575-579

  3. Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease

    Nutrients, Vol. 15, Núm. 4

2021

  1. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group

    Neuromuscular Disorders, Vol. 31, Núm. 12, pp. 1296-1310

2020

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

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

2017

  1. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

    Nature Communications, Vol. 8