Publicacións en colaboración con investigadores/as de Hospital do Meixoeiro (10)

2011

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

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

2009

  1. Permanent muscle weakness in McArdle disease

    Muscle and Nerve, Vol. 40, Núm. 3, pp. 350-357

  2. Phenotypic variability in a Spanish family with a Caveolin-3 mutation

    Journal of the Neurological Sciences, Vol. 276, Núm. 1-2, pp. 95-98

2005

  1. Autosomal dominant congenital fibre type disproportion: A clinicopathological and imaging study of a large family

    Brain, Vol. 128, Núm. 7, pp. 1716-1727

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

  2. Oxidation of methionine residues in the prion protein by hydrogen peroxide

    Archives of Biochemistry and Biophysics, Vol. 432, Núm. 2, pp. 188-195

2003

  1. Banco de Tejidos Neurológicos en el Laboratorio de Neuropatología. Organización básica

    Neurologia, Vol. 18, Núm. 10, pp. 709-715

  2. Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy

    Journal of the Neurological Sciences, Vol. 208, Núm. 1-2, pp. 87-91

2002

  1. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

    Neuromuscular Disorders, Vol. 12, Núm. 2, pp. 159-166

2000

  1. Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

    Neuromuscular Disorders, Vol. 10, Núm. 8, pp. 560-566