Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (14)

2024

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

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

2022

  1. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

    Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 728-735

  2. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

    Journal of Neurology, Vol. 269, Núm. 7, pp. 3550-3562

2021

  1. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

    Molecular Genetics and Metabolism Reports, Vol. 26

2020

  1. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

2019

  1. Late-onset thymidine kinase 2 deficiency: A review of 18 cases

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  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

  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. Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study

    Scientific Reports, Vol. 8, Núm. 1

2016

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

    PLoS ONE, Vol. 11, Núm. 10

2013

  1. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2012

  1. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

    Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250

2010

  1. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    BMC Neurology, Vol. 10