Publications by the researcher in collaboration with Pablo Mir Rivera (26)

2023

  1. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

  2. 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

2022

  1. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    Parkinsonism and Related Disorders, Vol. 94, pp. 67-78

  2. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

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. Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1

    Neurologia, Vol. 36, Núm. 2, pp. 149-158

  6. Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2

    Neurologia, Vol. 36, Núm. 2, pp. 159-168

  7. Present and future of parkinson’s disease in Spain: Parkinson-2030 delphi project

    Brain Sciences, Vol. 11, Núm. 8

  8. Spanish expert consensus on the use of safinamide in Parkinson's disease

    Neurologia, Vol. 36, Núm. 9, pp. 666-672

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. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

  2. 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

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

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

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

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

  5. 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

  6. 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