Publicaciones en colaboración con investigadoras/es de University of Pennsylvania (23)

2024

  1. Neuronal alpha-Synuclein Disease integrated staging system performance in PPMI, PASADENA, and SPARK baseline cohorts

    npj Parkinson's Disease, Vol. 10, Núm. 1

  2. Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

    Neuron

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

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

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

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

  3. Predictors of clinically significant quality of life impairment in Parkinson’s disease

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

  4. Predictors of loss of functional independence in parkinson’s disease: Results from the coppadis cohort at 2-year follow-up and comparison with a control group

    Diagnostics, Vol. 11, Núm. 10

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. N-Methyl-D-Aspartate Receptor Antibodies in Autoimmune Encephalopathy Alter Oligodendrocyte Function

    Annals of Neurology, Vol. 87, Núm. 5, pp. 670-676

  3. Non-motor symptom burden in patients with Parkinson’s disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. 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

  2. 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. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

  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

  3. The Parkinson's progression markers initiative (PPMI) – establishing a PD biomarker cohort

    Annals of Clinical and Translational Neurology, Vol. 5, Núm. 12, pp. 1460-1477

2016

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

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

2015

  1. Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease

    JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105