Jon Infante Ceberio-rekin lankidetzan egindako argitalpenak (35)

2023

  1. Analysis of retinal nerve layers in idiopathic, LRRK2-associated Parkinson's disease and unaffected carriers of G2019S mutation

    Parkinsonism and Related Disorders, Vol. 106

  2. Differential serum microRNAs in premotor LRRK2 G2019S carriers from Parkinson’s disease

    npj Parkinson's Disease, Vol. 9, Núm. 1

2022

  1. Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson's disease

    Parkinsonism and Related Disorders, Vol. 98, pp. 21-26

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

  5. Serial DaT-SPECT imaging in asymptomatic carriers of LRRK2 G2019S mutation: 8 years’ follow-up

    European Journal of Neurology, Vol. 28, Núm. 12, pp. 4204-4208

2020

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

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

  2. 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. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

    Movement Disorders, Vol. 34, Núm. 4, pp. 460-468

2018

  1. LRP10 in α-synucleinopathies

    The Lancet Neurology

  2. α-synuclein (SNCA) but not dynamin 3 (DNM3) influences age at onset of leucine-rich repeat kinase 2 (LRRK2) Parkinson's disease in Spain

    Movement Disorders, Vol. 33, Núm. 4, pp. 637-641

2017

  1. Prospective clinical and DaT-SPECT imaging in premotor LRRK2 G2019S-Associated Parkinson disease

    Neurology, Vol. 89, Núm. 5, pp. 439-444

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