Primary familial brain calcification: update on molecular genetics

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency

Dusan Bogunovic, Minji Byun, Larissa A. Durfee et al. · Science · 2012 · 541 citations · Full text

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Xianqin Zhang, Dusan Bogunovic, Béatrice Payelle‐Brogard et al. · Nature · 2014 · 539 citations · Full text

Inflammation, Cytokine, Immunology +6

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

Cheng Wang, Yulei Li, Lei Shi et al. · Nature Genetics · 2012 · 407 citations · Full text

Molecular Neuroscience, Signal Transduction, Mendelian Disorder +8

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

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 324 citations · Full text

Molecular Neuroscience, Neurology, Neuroscience +7

Mutation of the <i>PDGFRB</i> gene as a cause of idiopathic basal ganglia calcification

Gaël Nicolas, Cyril Pottier, David Maltête et al. · Neurology · 2012 · 275 citations