Organización Sanitaria Integrada Ezkerraldea-Enkarterri-Cruces
Organización de Osakidetza
Publicaciones en las que colabora con JAVIER RUIZ MARTÍNEZ (25)
2024
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Association of retinal neurodegeneration with the progression of cognitive decline in Parkinson’s disease
npj Parkinson's Disease, Vol. 10, Núm. 1
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Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials
Movement Disorders, Vol. 39, Núm. 8, pp. 1329-1342
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Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study
Brain, Vol. 147, Núm. 8, pp. 2652-2667
2023
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Staging Parkinson's Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life
Journal of Parkinson's disease, Vol. 13, Núm. 3, pp. 379-402
2021
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Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Nature Communications, Vol. 12, Núm. 1
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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
Nature Communications, Vol. 12, Núm. 1
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Identification of sixteen novel candidate genes for late onset Parkinson’s disease
Molecular Neurodegeneration, Vol. 16, Núm. 1
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Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease
Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42
2020
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Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
Brain, Vol. 143, Núm. 9, pp. 2771-2787
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Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance
Movement Disorders, Vol. 35, Núm. 10, pp. 1755-1764
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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Nature Communications, Vol. 11, Núm. 1
2019
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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
The Lancet Neurology, Vol. 18, Núm. 12, pp. 1091-1102
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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
npj Parkinson's Disease, Vol. 5, Núm. 1
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Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
npj Parkinson's Disease, Vol. 5, Núm. 1
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SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease
Movement Disorders, Vol. 34, Núm. 9, pp. 1333-1344
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The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
Movement Disorders, Vol. 34, Núm. 12, pp. 1851-1863
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Using global team science to identify genetic parkinson's disease worldwide
Annals of Neurology
2018
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LRP10 in α-synucleinopathies
The Lancet Neurology
2016
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COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015), a global -clinical evaluations, serum biomarkers, genetic studies and neuroimaging- prospective, multicenter, non-interventional, long-term study on Parkinson's disease progression
BMC Neurology, Vol. 16, Núm. 1
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Power calculations and placebo effect for future clinical trials in progressive supranuclear palsy
Movement Disorders, Vol. 31, Núm. 5, pp. 742-747