Publications in collaboration with researchers from University of Tübingen (20)

2024

  1. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

2023

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

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

2022

  1. 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. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  3. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, 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. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1

2019

  1. FAHN/SPG35: A narrow phenotypic spectrum across disease classifications

    Brain, Vol. 142, Núm. 6, pp. 1561-1572

  2. Feasibility and safety of lumbar puncture in the Parkinson's disease research participants: Parkinson's Progression Marker Initiative (PPMI)

    Parkinsonism and Related Disorders, Vol. 62, pp. 201-209

  3. 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

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

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

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

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

  6. 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

2018

  1. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    The Lancet Neurology, Vol. 17, Núm. 6, pp. 548-558

2017

  1. Coupled Proliferation and Apoptosis Maintain the Rapid Turnover of Microglia in the Adult Brain

    Cell Reports, Vol. 18, Núm. 2, pp. 391-405

  2. Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease

    European Journal of Neurology, Vol. 24, Núm. 2, pp. 427-e6

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Inflammatory profile in LRRK2-associated prodromal and clinical PD

    Journal of Neuroinflammation, Vol. 13, Núm. 1

2014

  1. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

    Nature Genetics, Vol. 46, Núm. 9, pp. 989-993