Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (7)

2024

  1. Searching molecular biomarkers correlating with BSID-III at 24 months in infants with neonatal hypoxic-ischemic encephalopathy

    European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3933-3942

2017

  1. Importancia de los enterovirus en neuropediatría: De los poliovirus a otros enterovirus

    Revista de Neurologia, Vol. 64, pp. S35-S38

2015

  1. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

    Neurology

2014

  1. Design and validation of a real-time RT-PCR for the simultaneous detection of enteroviruses and parechoviruses in clinical samples

    Journal of Virological Methods, Vol. 208, pp. 125-128

2013

  1. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

    Brain, Vol. 136, Núm. 5, pp. 1508-1517

2012

  1. Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, Núm. 3, pp. 322-328

2011

  1. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

    Neuromuscular Disorders, Vol. 21, Núm. 12, pp. 817-823