JAVIER
RUIZ MARTINEZ
PROFESORADO AGREGADO
Instituto de Investigación Sanitaria Biodonostia
San Sebastián, EspañaPublicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria Biodonostia (33)
2024
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A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells
npj Parkinson's Disease, Vol. 10, Núm. 1
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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Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease
npj Parkinson's Disease, Vol. 9, Núm. 1
2022
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Defects of Nutrient Signaling and Autophagy in Neurodegeneration
Frontiers in Cell and Developmental Biology, Vol. 10
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Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
iScience, Vol. 25, Núm. 6
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Pseudoathetosis and Pseudodystonia in Sensory Ganglionopathy Due to Anti-Amphiphysin and Anti-Hu Antibodies: A Rare Presentation Underlying a Neoplastic Etiology
Movement Disorders Clinical Practice
2021
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A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene
Frontiers in Neurology, Vol. 12
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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
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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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Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease
Aging, Vol. 12, Núm. 17, pp. 16690-16708
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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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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
2018
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Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation
Molecular Neurodegeneration, Vol. 13, Núm. 1
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Ratios of proteins in cerebrospinal fluid in Parkinson's disease cognitive decline: prospective study
Movement Disorders, Vol. 33, Núm. 11, pp. 1809-1813
2017
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Progressive changes in non-coding RNA profile in leucocytes with age
Aging, Vol. 9, Núm. 4, pp. 1202-1218