Publications in collaboration with researchers from Charles University in Prague (5)

2017

  1. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487

  2. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation, Vol. 38, Núm. 3, pp. 297-309

2015

  1. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: A European early-onset dementia consortium study

    Neurobiology of Aging, Vol. 36, Núm. 5, pp. 2005.e15-2005.e22

  2. Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

    Human Mutation, Vol. 36, Núm. 12, pp. 1226-1235

2014

  1. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410