Publicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (5)

2020

  1. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

  2. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain

    Genes, Vol. 11, Núm. 5

1998

  1. Distrofia muscular por déficit de la subunidad alfa-sarcoglucano del complejo de proteínas relacionadas con la distrofina

    Medicina Clinica, Vol. 110, Núm. 14, pp. 538-542

1995

  1. Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy

    Journal of Medical Genetics, Vol. 32, Núm. 2, pp. 105-108

1993

  1. Sex-related difference in intergenerational expansion of myotonic dystrophy gene

    The Lancet