FACULTAD DE CIENCIAS DE LA SALUD
Facultad/Centro de investigación
Centro de Investigación Médica Aplicada
Pamplona, EspañaCentro de Investigación Médica Aplicada-ko ikertzaileekin lankidetzan egindako argitalpenak (40)
2020
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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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Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings
Journal of Neurology, Vol. 266, Núm. 10, pp. 2396-2405
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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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Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome
Pharmacogenomics Journal, Vol. 18, Núm. 4, pp. 565-577
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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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Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies
PLoS Medicine, Vol. 15, Núm. 1
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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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Association between the rs1229984 polymorphism in the alcohol dehydrogenase 1B gene and risk for restless legs syndrome
Sleep, Vol. 40, Núm. 12
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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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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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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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A novel Alzheimer disease locus located near the gene encoding tau protein
Molecular Psychiatry, Vol. 21, Núm. 1, pp. 108-117
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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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Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations
Journal of Alzheimer's Disease, Vol. 53, Núm. 1, pp. 303-313