Publikationen, an denen er mitarbeitet Sara Ortega Cubero (20)

2023

  1. Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

    Biological Psychiatry, Vol. 93, Núm. 9, pp. 770-779

2021

  1. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

    Biological Psychiatry, Vol. 89, Núm. 8, pp. 825-835

  2. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

    Brain, Vol. 144, Núm. 9, pp. 2798-2811

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. CXCR4 involvement in neurodegenerative diseases

    Translational Psychiatry, Vol. 8, Núm. 1

  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

  2. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 88, Núm. 2, pp. 152-164

  3. Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Assessing the role of TUBA4A gene in frontotemporal degeneration

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

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

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

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

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