JAVIER
RUIZ MARTÍNEZ
University of California, San Francisco
San Francisco, Estados UnidosPublicaciones en colaboración con investigadores/as de University of California, San Francisco (14)
2024
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Neuronal alpha-Synuclein Disease integrated staging system performance in PPMI, PASADENA, and SPARK baseline cohorts
npj Parkinson's Disease, Vol. 10, Núm. 1
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
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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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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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
2018
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The Parkinson's progression markers initiative (PPMI) – establishing a PD biomarker cohort
Annals of Clinical and Translational Neurology, Vol. 5, Núm. 12, pp. 1460-1477
2016
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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