Publicaciones en colaboración con investigadores/as de Copenhagen University Hospital (7)

2024

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

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

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