SARA
ORTEGA CUBERO
Profesor Asociado
Mutua de Terrassa
Terrassa, EspañaPublicaciones en colaboración con investigadores/as de Mutua de Terrassa (29)
2021
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Exome-wide rare variant analysis in familial essential tremor
Parkinsonism and Related Disorders, Vol. 82, pp. 109-116
2019
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Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings
Journal of Neurology, Vol. 266, Núm. 10, pp. 2396-2405
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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Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)
Neurology, Vol. 91, Núm. 21, pp. E1988-E1998
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Pleiotropic effects of variants in dementia genes in Parkinson disease
Frontiers in Neuroscience, Vol. 12, Núm. APR
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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
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Delta-amino-levulinic acid dehydratase gene and essential tremor
European Journal of Clinical Investigation, Vol. 47, Núm. 5, pp. 348-356
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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
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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
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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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A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor
Neurological Research, Vol. 38, Núm. 10, pp. 880-887
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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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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
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Genome-wide association study in essential tremor identifies three new loci
Brain, Vol. 139, Núm. 12, pp. 3163-3169
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Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis
Scientific Reports, Vol. 6
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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
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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease
Molecular Neurodegeneration, Vol. 11, Núm. 1