Publicaciones en colaboración con investigadoras/es de Columbia University Medical Center (5)

2022

  1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

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

2013

  1. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406