Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (15)

2021

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

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

2019

  1. Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings

    Journal of Neurology, Vol. 266, Núm. 10, pp. 2396-2405

2017

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

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

  2. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation, Vol. 38, Núm. 3, pp. 297-309

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. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

    Neurobiology of Aging, Vol. 38, pp. 214.e7-214.e10

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

  2. 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

  3. 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

2014

  1. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

    Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4

  2. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

    Human Molecular Genetics, Vol. 23, Núm. 3, pp. 749-754

  3. Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

    Neurobiology of Aging, Vol. 35, Núm. 11, pp. 2657.e13-2657.e19

  4. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410

2013

  1. Fused in sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in europeans

    Neurobiology of Aging, Vol. 34, Núm. 10, pp. 2441.e9-2441.e11