JUAN MARÍA DE LA
OBRA SIERRA
Chercheur dans le période 1988-2015
Jon
Infante Ceberio
Publications dans lesquelles il/elle collabore avec Jon Infante Ceberio (36)
2024
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Oculomotor Dysfunction in Idiopathic and LRRK2-Parkinson's Disease and At-Risk Individuals
Journal of Parkinson's disease, Vol. 14, Núm. 4, pp. 797-808
2023
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Analysis of retinal nerve layers in idiopathic, LRRK2-associated Parkinson's disease and unaffected carriers of G2019S mutation
Parkinsonism and Related Disorders, Vol. 106
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Differential serum microRNAs in premotor LRRK2 G2019S carriers from Parkinson’s disease
npj Parkinson's Disease, Vol. 9, Núm. 1
2022
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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
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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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Identification of sixteen novel candidate genes for late onset Parkinson’s disease
Molecular Neurodegeneration, Vol. 16, 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
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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
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Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
Brain, Vol. 143, Núm. 9, pp. 2771-2787
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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
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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
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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
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LRP10 in α-synucleinopathies
The Lancet Neurology
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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
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Prospective clinical and DaT-SPECT imaging in premotor LRRK2 G2019S-Associated Parkinson disease
Neurology, Vol. 89, Núm. 5, pp. 439-444