Publicacións nas que colabora con Roberto Fernández Torrón (10)

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

2020

  1. Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

    Neurology, Vol. 94, Núm. 11, pp. e1171-e1180

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

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

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

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