Instituto de Investigación Sanitaria La Fe-ko ikertzaileekin lankidetzan egindako argitalpenak (9)

2024

  1. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

    European Journal of Human Genetics, Vol. 32, Núm. 7, pp. 770-778

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

2020

  1. Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

    Aging, Vol. 12, Núm. 17, pp. 16690-16708

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

    Nature Communications, Vol. 11, Núm. 1

2019

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

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

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

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

  3. 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

  4. 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