Publicaciones en colaboración con investigadores/as de Pitié-Salpêtrière Hospital (4)

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

2008

  1. Gene expression profiling in limb-girdle muscular dystrophy 2A

    PLoS ONE, Vol. 3, Núm. 11

2005

  1. LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene

    Brain, Vol. 128, Núm. 4, pp. 732-742

1999

  1. Calpainopathy - A survey of mutations and polymorphisms

    American Journal of Human Genetics, Vol. 64, Núm. 6, pp. 1524-1540