Publicaciones en colaboración con investigadoras/es de Columbia University Medical Center (13)

2022

  1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

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

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

2020

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

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

2018

  1. Aβ 1–42 triggers the generation of a retrograde signaling complex from sentinel mRNAs in axons

    EMBO Reports, Vol. 19, Núm. 7

  2. 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. 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

  2. Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease

    Movement Disorders, Vol. 31, Núm. 8, pp. 1192-1202

2015

  1. Are symptom features of depression during pregnancy, the postpartum period and outside the peripartum period distinct? Results from a nationally representative sample using item response theory (IRT)

    Depression and Anxiety, Vol. 32, Núm. 2, pp. 129-140

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

2013

  1. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406