Publicaciones en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (13)

2023

  1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

2021

  1. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 3001-3011

2020

  1. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

    Acta Neuropathologica, Vol. 139, Núm. 3, pp. 565-582

2019

  1. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

    Neurologia, Vol. 34, Núm. 7, pp. 469-481

  2. 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

2018

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

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

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

  2. Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

    Journal of Neurology, Neurosurgery and Psychiatry

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

2007

  1. Dysferlin expression in monocytes: A source of mRNA for mutation analysis

    Neuromuscular Disorders, Vol. 17, Núm. 1, pp. 69-76