Publicacións en colaboración con investigadores/as de University Medical Center Freiburg (3)

2024

  1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Nature communications, Vol. 15, Núm. 1, pp. 2269

2019

  1. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Brain, Vol. 142, Núm. 10, pp. 2948-2964

2018

  1. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

    Brain, Vol. 141, Núm. 2, pp. 391-408