Publications in collaboration with researchers from Hospital Clinic Barcelona (23)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2022

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

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

2021

  1. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2020

  1. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

  2. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain

    Genes, Vol. 11, Núm. 5

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

  2. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

  3. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

    Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136

2018

  1. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

    Muscle and Nerve, Vol. 58, Núm. 6, pp. 812-817

  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. Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study

    Scientific Reports, Vol. 8, Núm. 1

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Assessing the role of TUBA4A gene in frontotemporal degeneration

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

  2. DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease

    Movement Disorders, Vol. 31, Núm. 3, pp. 335-343

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

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

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

2013

  1. Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers

    Neurobiology of Aging, Vol. 34, Núm. 5, pp. 1462-1468

2011

  1. HLA-DRB1 typing in caucasians patients with neuromyelitis optica

    Revista de Neurologia, Vol. 53, Núm. 3, pp. 146-152