UNIOVI-PEDIATRIA
OVIPED
Hospital Universitario Marqués de Valdecilla
Santander, EspañaHospital Universitario Marqués de Valdecilla -ko ikertzaileekin lankidetzan egindako argitalpenak (40)
2022
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Natural History of MYH7-Related Dilated Cardiomyopathy
Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461
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RICORS2040: The need for collaborative research in chronic kidney disease
Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387
2019
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
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The epistasis project: A multi-cohort study of the effects of BDNF, DBH, and SORT1 epistasis on Alzheimer's disease risk
Journal of Alzheimer's Disease, Vol. 68, Núm. 4, pp. 1535-1547
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Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease
Translational Psychiatry, Vol. 9, Núm. 1
2016
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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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ABCB1 (MDR-1) pharmacogenetics of tacrolimus in renal transplanted patients: A Next Generation Sequencing approach
Clinical Chemistry and Laboratory Medicine, Vol. 53, Núm. 10, pp. 1515-1519
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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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Convergent genetic and expression data implicate immunity in Alzheimer's disease
Alzheimer's and Dementia, Vol. 11, Núm. 6, pp. 658-671
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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
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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Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease
PLoS ONE, Vol. 9, Núm. 6
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The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project
European Journal of Human Genetics, Vol. 22, Núm. 2, pp. 216-220
2013
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Discovery by the Epistasis Project of an epistatic interaction between the GSTM3 gene and the HHEX/IDE/KIF11 locus in the risk of Alzheimer's disease
Neurobiology of Aging, Vol. 34, Núm. 4, pp. 1309.e1-1309.e7
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Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease
Molecular Psychiatry, Vol. 18, Núm. 4, pp. 461-470
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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Nature Genetics, Vol. 45, Núm. 12, pp. 1452-1458
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262
2012
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Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus
Molecular Genetics and Metabolism, Vol. 105, Núm. 3, pp. 525-527