Publicacions en col·laboració amb investigadors/es de Hospital Universitario La Fe (7)

2022

  1. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

    International Journal of Molecular Sciences, Vol. 23, Núm. 9

2021

  1. Candidate genes for eyelid myoclonia with absences, review of the literature

    International Journal of Molecular Sciences, Vol. 22, Núm. 11

2020

  1. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

    The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246

  2. Clinical spectrum of BICD2 mutations

    European Journal of Neurology, Vol. 27, Núm. 7, pp. 1327-1335

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  2. Molecular characterization of congenital myasthenic syndromes in Spain

    Neuromuscular Disorders, Vol. 27, Núm. 12, pp. 1087-1098

2016

  1. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

    Neuromuscular Disorders, Vol. 26, Núm. 2, pp. 153-159