Neurociencias
Departamento
Instituto de Biomedicina de Valencia
Valencia, EspañaPublicaciones en colaboración con investigadoras/es de Instituto de Biomedicina de Valencia (23)
2023
2022
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
2020
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Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease
Aging, Vol. 12, Núm. 17, pp. 16690-16708
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The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History
Movement Disorders
2019
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Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347
2016
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Assessing the role of TUBA4A gene in frontotemporal degeneration
Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14
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
2011
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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
Muscle and Nerve, Vol. 44, Núm. 5, pp. 710-714
2008
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Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness
Audiology and Neurotology, Vol. 13, Núm. 5, pp. 320-327
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Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings
Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952
2006
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Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the Basques
Movement Disorders, Vol. 21, Núm. 11, pp. 1954-1959
2005
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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease
Neurology, Vol. 64, Núm. 9, pp. 1578-1585
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Familial Parkinson's disease: Clinical and genetic analysis of four Basque families
Annals of Neurology, Vol. 57, Núm. 3, pp. 365-372
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Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
Journal of Medical Genetics, Vol. 42, Núm. 4, pp. 358-365
2004
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Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
Neuron, Vol. 44, Núm. 4, pp. 595-600