Publicacions en col·laboració amb investigadors/es de Hospital Clinic Barcelona (26)

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. COST Actions: fostering collaborative research for rare diseases

    The Lancet Neurology

  2. 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

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

    Scientific Reports, Vol. 9, Núm. 1

  4. 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

  2. Multidisciplinary management of head and neck cancer: First expert consensus using Delphi methodology from the Spanish Society for Head and Neck Cancer (part 2)

    Oral Oncology, Vol. 70, pp. 65-72

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

  3. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

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