JAVIER
RUIZ MARTINEZ
PROFESORADO AGREGADO
Baylor College of Medicine
Houston, Estados UnidosPublicaciones en colaboración con investigadoras/es de Baylor College of Medicine (12)
2023
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Corrigendum: Clinical and genetic analysis of Costa Rican patients with Parkinson's disease (Front. Neurol., (2022), 12, 656342, 10.3389/fneur.2021.656342)
Frontiers in Neurology
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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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Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease
Frontiers in Neurology, Vol. 12
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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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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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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