Publications by the researcher in collaboration with Eduardo Tolosa Sarró (54)

2024

  1. Mitochondrial DNA deletions in the cerebrospinal fluid of patients with idiopathic REM sleep behaviour disorder

    eBioMedicine, Vol. 102

2023

  1. Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease

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

  2. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

    Movement Disorders, Vol. 38, Núm. 2, pp. 286-303

2022

  1. Cell-free mitochondrial DNA deletions in idiopathic, but not LRRK2, Parkinson's disease

    Neurobiology of Disease, Vol. 174

  2. Differential Phospho-Signatures in Blood Cells Identify LRRK2 G2019S Carriers in Parkinson's Disease

    Movement Disorders, Vol. 37, Núm. 5, pp. 1004-1015

  3. Increased Phospho-AKT in Blood Cells from LRRK2 G2019S Mutation Carriers

    Annals of Neurology, Vol. 92, Núm. 5, pp. 888-894

  4. Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort

    npj Parkinson's Disease, Vol. 8, Núm. 1

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. R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils

    Acta Neuropathologica, Vol. 142, Núm. 3, pp. 475-494

  6. Serum metabolic biomarkers for synucleinopathy conversion in isolated REM sleep behavior disorder

    npj Parkinson's Disease, Vol. 7, Núm. 1

  7. Transcriptome analysis in LRRK2 and idiopathic Parkinson’s disease at different glucose levels

    npj Parkinson's Disease, Vol. 7, Núm. 1

2020

  1. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

    The Lancet Neurology, Vol. 19, Núm. 1, pp. 71-80

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

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

  3. Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1816-1830

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

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

  5. Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance

    Movement Disorders, Vol. 35, Núm. 10, pp. 1755-1764

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

    Nature Communications, Vol. 11, Núm. 1