Publikationen in Zusammenarbeit mit Forschern von Hospital Clinic Barcelona (36)

2024

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

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

  2. Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

    Brain, Vol. 147, Núm. 5, pp. 1899-1913

2023

  1. Proposed Recommendations for the Management of Depression in Adults with Epilepsy: An Expert Consensus

    Neurology and Therapy, Vol. 12, Núm. 2, pp. 479-503

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. A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey

    Neurology and Therapy, Vol. 10, Núm. 2, pp. 833-845

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

    Translational Psychiatry, Vol. 11, Núm. 1

  3. Relationship between sleep quality and cognitive performance in patients with epilepsy

    Epilepsy and Behavior, Vol. 122

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. Sleep-related movement and behavioural disorders in adults

    Revista de Neurologia, Vol. 71, Núm. 10, pp. 377-386

  3. 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. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Skeletal Muscle, Vol. 8, Núm. 1

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

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

  3. 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

  4. 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. Erratum to “Safety, efficacy and outcome-related factors of perampanel over 12months in a real-world setting: The FYDATA study” [Epilepsy Res. (2016) 126 (201–210)] (S0920121116301218)(10.1016/j.eplepsyres.2016.08.001)

    Epilepsy Research