SARA
ORTEGA CUBERO
Profesor Asociado
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (42)
2020
-
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
-
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
Scientific Reports, Vol. 10, Núm. 1
2019
-
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
-
Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings
Journal of Neurology, Vol. 266, Núm. 10, pp. 2396-2405
-
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Nature Medicine, Vol. 25, Núm. 1, pp. 152-164
2018
-
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Brain, Vol. 141, Núm. 10, pp. 2895-2907
-
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies
PLoS Medicine, Vol. 15, Núm. 1
-
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population
Neurobiology of Aging, Vol. 70, pp. 325.e1-325.e5
-
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
-
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487
-
Delta-amino-levulinic acid dehydratase gene and essential tremor
European Journal of Clinical Investigation, Vol. 47, Núm. 5, pp. 348-356
-
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Nature Genetics, Vol. 49, Núm. 9, pp. 1373-1384
-
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
-
Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome
Journal of Neural Transmission, Vol. 124, Núm. 3, pp. 285-291
2016
-
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
Acta Neuropathologica, Vol. 132, Núm. 2, pp. 213-224
-
A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor
Neurological Research, Vol. 38, Núm. 10, pp. 880-887
-
A novel Alzheimer disease locus located near the gene encoding tau protein
Molecular Psychiatry, Vol. 21, Núm. 1, pp. 108-117
-
Assessing the role of TUBA4A gene in frontotemporal degeneration
Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14
-
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases
Neurobiology of Aging, Vol. 38, pp. 214.e7-214.e10
-
Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis
Scientific Reports, Vol. 6