Publicacións en colaboración con investigadores/as de Universidade de Pernambuco (6)

2018

  1. Primary familial brain calcifications

    Handbook of Clinical Neurology (Elsevier B.V.), pp. 307-317

2017

  1. Brain calcifications and PCDH12 variants

    Neurology: Genetics, Vol. 3, Núm. 4

2015

  1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22

  2. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2012

  1. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

    Nature Genetics, Vol. 44, Núm. 3, pp. 254-256