Publicaciones en colaboración con investigadoras/es de Commonwealth Scientific and Industrial Research Organisation (3)

2020

  1. Genotype–phenotype correlations in recessive titinopathies

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

2018

  1. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    The Lancet Neurology, Vol. 17, Núm. 6, pp. 548-558

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