JAVIER RUIZ MARTÍNEZ-rekin lankidetzan egindako argitalpenak (25)

2024

  1. Association of retinal neurodegeneration with the progression of cognitive decline in Parkinson’s disease

    npj Parkinson's Disease, Vol. 10, Núm. 1

  2. Magnetic Resonance Imaging Measures to Track Atrophy Progression in Progressive Supranuclear Palsy in Clinical Trials

    Movement Disorders, Vol. 39, Núm. 8, pp. 1329-1342

  3. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Brain, Vol. 147, Núm. 8, pp. 2652-2667

2023

  1. Staging Parkinson's Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life

    Journal of Parkinson's disease, Vol. 13, Núm. 3, pp. 379-402

2021

  1. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  2. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  3. Identification of sixteen novel candidate genes for late onset Parkinson’s disease

    Molecular Neurodegeneration, Vol. 16, Núm. 1

  4. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

    Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42

2020

  1. Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

    Brain, Vol. 143, Núm. 9, pp. 2771-2787

  2. Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance

    Movement Disorders, Vol. 35, Núm. 10, pp. 1755-1764

  3. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1

2019

  1. 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

  2. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

    npj Parkinson's Disease, Vol. 5, Núm. 1

  3. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    npj Parkinson's Disease, Vol. 5, Núm. 1

  4. 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

  5. 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

  6. Using global team science to identify genetic parkinson's disease worldwide

    Annals of Neurology

2018

  1. LRP10 in α-synucleinopathies

    The Lancet Neurology

2016

  1. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015), a global -clinical evaluations, serum biomarkers, genetic studies and neuroimaging- prospective, multicenter, non-interventional, long-term study on Parkinson's disease progression

    BMC Neurology, Vol. 16, Núm. 1

  2. Power calculations and placebo effect for future clinical trials in progressive supranuclear palsy

    Movement Disorders, Vol. 31, Núm. 5, pp. 742-747