Publikationen in Zusammenarbeit mit Forschern von Instituto de Investigación Sanitaria La Fe (5)

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. Clinical spectrum of BICD2 mutations

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

2017

  1. A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

    Neurogenetics, Vol. 18, Núm. 4, pp. 245-250

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

    Scientific Reports, Vol. 7, Núm. 1