JAVIER
RUIZ MARTINEZ
PROFESORADO AGREGADO
Pierre and Marie Curie University
París, FranciaPublicaciones en colaboración con investigadoras/es de Pierre and Marie Curie University (14)
2023
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Movement Disorders, Vol. 38, Núm. 2, pp. 286-303
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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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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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
2017
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Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease
European Journal of Neurology, Vol. 24, Núm. 2, pp. 427-e6
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Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry
Movement Disorders, Vol. 32, Núm. 10, pp. 1432-1438
2016
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Inflammatory profile in LRRK2-associated prodromal and clinical PD
Journal of Neuroinflammation, Vol. 13, Núm. 1
2015
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Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease
JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105