Publicaciones en colaboración con investigadores/as de Children's Hospital of Eastern Ontario (2)

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

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