Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (2)

2013

  1. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

    Brain, Vol. 136, Núm. 5, pp. 1508-1517

2011

  1. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

    Neuromuscular Disorders, Vol. 21, Núm. 12, pp. 817-823