First Report of a De Novo Mutation at SLC20A2 in a Patient with Brain Calcification

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

Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

Yang Zhang, Xianan Guo, Anhua Wu · PLoS ONE · 2013 · 56 citations · Full text

Novel Mutation, Mendelian Disorder, Genetic Disorder +15

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

Gaël Nicolas, Anne Rovelet‐Lecrux, Cyril Pottier et al. · Journal of Molecular Neuroscience · 2014 · 54 citations

Neurological Disorder, Pdgfb Partial Deletion, Pathology +8