SARA
ORTEGA CUBERO
Profesor Asociado
Universitat Autònoma de Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (24)
2020
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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
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Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
Scientific Reports, Vol. 10, Núm. 1
2019
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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
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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Nature Medicine, Vol. 25, Núm. 1, pp. 152-164
2018
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A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Brain, Vol. 141, Núm. 10, pp. 2895-2907
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Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies
PLoS Medicine, Vol. 15, Núm. 1
2017
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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487
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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
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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
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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
2016
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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
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Assessing the role of TUBA4A gene in frontotemporal degeneration
Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14
2015
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Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Brain
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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
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MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium
Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352
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Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor
Human Molecular Genetics, Vol. 24, Núm. 20, pp. 5677-5686
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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
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TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study
Parkinsonism and Related Disorders, Vol. 21, Núm. 3, pp. 306-309
2014
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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
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
Human Molecular Genetics, Vol. 23, Núm. 3, pp. 749-754