Javier Pagonabarraga Mora-rekin lankidetzan egindako argitalpenak (15)

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. MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways

    Movement Disorders, Vol. 35, Núm. 10, pp. 1873-1879

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

    Nature Communications, Vol. 11, Núm. 1

  4. Transcriptomic differences in MSA clinical variants

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study

    Parkinsonism and Related Disorders, Vol. 65, pp. 3-12

  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

2018

  1. Cerebrospinal fluid levels of coenzyme Q10 are reduced in multiple system atrophy

    Parkinsonism and Related Disorders, Vol. 46, pp. 16-23

  2. LRP10 in α-synucleinopathies

    The Lancet Neurology