Publicacions en col·laboració amb investigadors/es de Yale School of Medicine (4)

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

2022

  1. A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

    Neuropathology and Applied Neurobiology, Vol. 48, Núm. 1

2019

  1. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

    Annals of Neurology, Vol. 86, Núm. 2, pp. 225-240

2017

  1. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

    American Journal of Human Genetics, Vol. 100, Núm. 6, pp. 969-977