Publikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (20)

2020

  1. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)

    Acta Neuropathologica

  2. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

    Scientific Reports, Vol. 9, Núm. 1

  2. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    Nature Medicine, Vol. 25, Núm. 1, pp. 152-164

2018

  1. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

    Brain, Vol. 141, Núm. 10, pp. 2895-2907

  2. Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

    Neurobiology of Aging, Vol. 62, pp. 245.e1-245.e7

  3. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    PLoS Medicine, Vol. 15, Núm. 1

  4. Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants

    Neurobiology of Aging, Vol. 66, pp. 177.e7-177.e10

2017

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

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

2016

  1. Assessing the role of TUBA4A gene in frontotemporal degeneration

    Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14

2015

  1. Convergent genetic and expression data implicate immunity in Alzheimer's disease

    Alzheimer's and Dementia, Vol. 11, Núm. 6, pp. 658-671

2014

  1. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

    Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4

  2. Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

    Neurobiology of Aging, Vol. 35, Núm. 12, pp. 2681-2690

  3. Frontotemporal dementia and its subtypes: A genome-wide association study

    The Lancet Neurology, Vol. 13, Núm. 7, pp. 686-699

  4. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

    PLoS ONE, Vol. 9, Núm. 6

  5. Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

    Neurobiology of Aging, Vol. 35, Núm. 11, pp. 2657.e13-2657.e19

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

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

2013

  1. C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

    PLoS ONE, Vol. 8, Núm. 2

  2. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Nature Genetics, Vol. 45, Núm. 12, pp. 1452-1458

2012

  1. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

    Alzheimer's Research and Therapy, Vol. 4, Núm. 4