Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells

SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification

(2016) Mary Catherine Wallingford et al.   BRAIN PATHOLOGY

Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification

(2016) Xiaomin Liu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Brain calcification process and phenotypes according to age and sex: Lessons fromSLC20A2,PDGFB, andPDGFRBmutation carriers

(2015) Gaël Nicolas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Update and Mutational Analysis ofSLC20A2: A Major Cause of Primary Familial Brain Calcification

(2015) Roberta R. Lemos et al.   HUMAN MUTATION

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

(2015) Andrea Legati et al.   NATURE GENETICS

Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid

(2015) Nina Jensen et al.   NEUROGENETICS

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with anSLC20A2mutation

(2015) Tadashi Kimura et al.   NEUROPATHOLOGY

The Genetics of Primary Familial Brain Calcifications

(2014) Ana Westenberger et al.   Current Neurology and Neuroscience Reports

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

(2014) J. B. Ferreira et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Primary familial brain calcification: Genetic analysis and clinical spectrum

(2014) Ilaria Taglia et al.   MOVEMENT DISORDERS

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

(2014) M. Yamada et al.   NEUROLOGY

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

(2013) Gaël Nicolas et al.   BRAIN

Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification

(2013) R. R. Lemos et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2013) Wan-Jin Chen et al.   GENE

Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

(2013) Nina Jensen 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

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

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

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

Familial idiopathic basal ganglia calcification: a challenging clinical–pathological correlation

(2009) Christian Wider et al.   JOURNAL OF NEUROLOGY