Publicaciones en colaboración con investigadoras/es de Università degli Studi di Siena (3)

2020

  1. Genotype–phenotype correlations in recessive titinopathies

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

2019

  1. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

    Brain, Vol. 142, Núm. 9, pp. 2605-2616

2010

  1. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

    Nature Genetics, Vol. 42, Núm. 3, pp. 234-239