Publicaciones en colaboración con investigadoras/es de German Center for Neurodegenerative Diseases (25)

2023

  1. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

2022

  1. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

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

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

  4. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

    Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42

2020

  1. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)

    Acta Neuropathologica

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

    Nature Communications, Vol. 11, Núm. 1

2019

  1. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

    Acta Neuropathologica, Vol. 138, Núm. 2, pp. 237-250

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

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

  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. Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

    Current Neurology and Neuroscience Reports, Vol. 17, Núm. 4

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

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

  3. Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry

    Movement Disorders, Vol. 32, Núm. 10, pp. 1432-1438

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