Publicacións en colaboración con investigadores/as de Universitat Autònoma de Barcelona (3)

2023

  1. Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

    International journal of molecular sciences, Vol. 24, Núm. 6

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. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262