Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (10)

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

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

2019

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

    Scientific Reports, Vol. 9, Núm. 1

  2. 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. 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. Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function

    PLoS ONE, Vol. 11, Núm. 10

2015

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

    Brain

2014

  1. Neuroimagen funcional en el diagnóstico de pacientes con síndrome parkinsoniano: Actualización y recomendaciones para el uso clínico

    Revista Espanola de Medicina Nuclear e Imagen Molecular, Vol. 33, Núm. 4, pp. 215-226