Publicacións en colaboración con investigadores/as de Universitat Autònoma de Barcelona (5)

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

2020

  1. 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

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

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

2017

  1. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

    Neurogenetics, Vol. 18, Núm. 1, pp. 63-67

2015

  1. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

    Neurology