Publications in collaboration with researchers from Universidade de Santiago de Compostela (3)

2023

  1. Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

    Journal of Clinical Medicine, Vol. 12, Núm. 17

2011

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

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

2004

  1. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

    Archives of Neurology, Vol. 61, Núm. 7, pp. 1108-1110