Publicaciones en colaboración con investigadores/as de Mutua de Terrassa (17)

2024

  1. Automatic Segmentation and Quantification of Nigrosome-1 Neuromelanin and Iron in MRI: A Candidate Biomarker for Parkinson's Disease

    Journal of Magnetic Resonance Imaging, Vol. 60, Núm. 2, pp. 534-547

2023

  1. Brainstem neuromelanin and iron MRI reveals a precise signature for idiopathic and LRRK2 Parkinson’s disease

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

2021

  1. Exome-wide rare variant analysis in familial essential tremor

    Parkinsonism and Related Disorders, Vol. 82, pp. 109-116

2019

  1. Dynamic atlas-based segmentation and quantification of neuromelanin-rich brainstem structures in Parkinson disease

    IEEE Transactions on Medical Imaging, Vol. 38, Núm. 3, pp. 813-823

2018

  1. Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

    Neurobiology of Aging, Vol. 62, pp. 245.e1-245.e7

  2. Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

    Neurobiology of Aging, Vol. 70, pp. 325.e1-325.e5

  3. Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants

    Neurobiology of Aging, Vol. 66, pp. 177.e7-177.e10

2017

  1. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487

2016

  1. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 132, Núm. 2, pp. 213-224

  2. Assessing the role of TUBA4A gene in frontotemporal degeneration

    Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14

  3. Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

    Journal of Alzheimer's Disease, Vol. 53, Núm. 1, pp. 303-313

2015

  1. Automated Neuromelanin Imaging as a Diagnostic Biomarker for Parkinson's Disease

    Movement Disorders, Vol. 30, Núm. 7, pp. 945-952

  2. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: A European early-onset dementia consortium study

    Neurobiology of Aging, Vol. 36, Núm. 5, pp. 2005.e15-2005.e22

  3. MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium

    Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352

  4. Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

    Human Mutation, Vol. 36, Núm. 12, pp. 1226-1235

  5. TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study

    Parkinsonism and Related Disorders, Vol. 21, Núm. 3, pp. 306-309

2009

  1. 5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

    Neurobiology of Disease, Vol. 33, Núm. 2, pp. 164-170