A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification

(2013) Wan-Jin Chen et al.   GENE

Analysis of Gene Expression Pattern and Neuroanatomical Correlates for SLC20A2 (PiT-2) Shows a Molecular Network with Potential Impact in Idiopathic Basal Ganglia Calcification (“Fahr’s Disease”)

(2013) R. J. Galdino da Silva et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

(2013) Annika Keller et al.   NATURE GENETICS

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

(2013) Sandy Chan Hsu et al.   NEUROGENETICS

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

(2013) Yang Zhang et al.   PLoS One

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

(2012) Cheng Wang et al.   NATURE GENETICS

Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life

(2011) Pernille Bøttger et al.   BMC BIOCHEMISTRY