JAVIER
RUIZ MARTINEZ
PROFESORADO AGREGADO
Eduardo
Tolosa Sarró
Publicaciones en las que colabora con Eduardo Tolosa Sarró (31)
2023
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Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease
npj Parkinson's Disease, Vol. 9, Núm. 1
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Movement Disorders, Vol. 38, Núm. 2, pp. 286-303
2022
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Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort
npj Parkinson's Disease, Vol. 8, Núm. 1
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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R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
Acta Neuropathologica, Vol. 142, Núm. 3, pp. 475-494
2020
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Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study
The Lancet Neurology, Vol. 19, Núm. 1, pp. 71-80
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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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Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1816-1830
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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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Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls
Movement Disorders, Vol. 34, Núm. 9, pp. 1392-1398
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Feasibility and safety of lumbar puncture in the Parkinson's disease research participants: Parkinson's Progression Marker Initiative (PPMI)
Parkinsonism and Related Disorders, Vol. 62, pp. 201-209
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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