Publications by the researcher in collaboration with Isabel Illa Sendra (18)

2023

  1. Erratum: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(Brain (2020) 143:9 (2696–2708) DOI:10.1093/brain/awaa228)

    Brain

2022

  1. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

2021

  1. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis

    European Journal of Neurology, Vol. 28, Núm. 6, pp. 2083-2091

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

  2. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

  3. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

    Medicina Clinica, Vol. 154, Núm. 3, pp. 80-85

2019

  1. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

  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. 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 imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

    Neuromuscular Disorders, Vol. 26, Núm. 1, pp. 33-40

2015

  1. Guidelines for monitoring late-onset Pompe disease

    Revista de Neurologia, Vol. 60, Núm. 7, pp. 321-328

  2. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

    Neuromuscular Disorders, Vol. 25, Núm. 7, pp. 548-553

2012

  1. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507

2008

  1. Characterization of novel CAPN3 isoforms in white blood cells: An alternative approach for limb-girdle muscular dystrophy 2A diagnosis

    Neurogenetics, Vol. 9, Núm. 3, pp. 173-182

  2. Gene expression profiling in limb-girdle muscular dystrophy 2A

    PLoS ONE, Vol. 3, Núm. 11

1999

  1. Calpain deficiency in Spain and Aquitania

    Acta Myologica