Organización Sanitaria Integrada Ezkerraldea-Enkarterri-Cruces
Organización de Osakidetza
Pablo
Mir Rivera
Publications dans lesquelles il/elle collabore avec Pablo Mir Rivera (26)
2023
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Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study
Neurologia, Vol. 38, Núm. 6, pp. 379-386
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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
2022
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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Parkinsonism and Related Disorders, Vol. 94, pp. 67-78
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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
International Journal of Molecular Sciences, Vol. 23, Núm. 19
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
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Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1
Neurologia, Vol. 36, Núm. 2, pp. 149-158
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Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2
Neurologia, Vol. 36, Núm. 2, pp. 159-168
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Present and future of parkinson’s disease in Spain: Parkinson-2030 delphi project
Brain Sciences, Vol. 11, Núm. 8
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Spanish expert consensus on the use of safinamide in Parkinson's disease
Neurologia, Vol. 36, Núm. 9, pp. 666-672
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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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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Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, Vol. 61, pp. 101-105
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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