Sara
Ortega Cubero
Publicaciones en las que colabora con Sara Ortega Cubero (15)
2021
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Exome-wide rare variant analysis in familial essential tremor
Parkinsonism and Related Disorders, Vol. 82, pp. 109-116
2018
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Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population
Neurobiology of Aging, Vol. 70, pp. 325.e1-325.e5
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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
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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
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
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Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations
Journal of Alzheimer's Disease, Vol. 53, Núm. 1, pp. 303-313
2015
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Automated Neuromelanin Imaging as a Diagnostic Biomarker for Parkinson's Disease
Movement Disorders, Vol. 30, Núm. 7, pp. 945-952
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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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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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Frontobasal gray matter loss is associated with the TREM2 p.R47H variant
Neurobiology of Aging, Vol. 35, Núm. 12, pp. 2681-2690
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Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes
Neurobiology of Aging, Vol. 35, Núm. 11, pp. 2657.e13-2657.e19
2013
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Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans
Neurobiology of Aging, Vol. 34, Núm. 10, pp. 2441.e9-2441.e11