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

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

(2015) Andrea Legati et al.   NATURE GENETICS

The Genetics of Primary Familial Brain Calcifications

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

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

(2014) Gaël Nicolas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Screening and Functional Characterization ofPDGFRBMutations Associated with Basal Ganglia Calcification of Unknown Etiology

(2014) Monica Sanchez-Contreras et al.   HUMAN MUTATION

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

(2014) Gaël Nicolas et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

Localization of type-III sodium-dependent phosphate transporter 2 in the mouse brain

(2013) Masatoshi Inden et al.   BRAIN RESEARCH

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

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

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

(2013) Kensaku Kasuga et al.   JOURNAL OF NEUROLOGY

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

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients

(2011) Sara Bonazza et al.   NEUROLOGICAL SCIENCES

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification

(2010) Xiaohua Dai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Widespread ischemic brain lesions caused by vasculopathy associated with neurofibromatosis type 1

(2010) Kenichi Okazaki et al.   NEUROPATHOLOGY

2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family

(2009) Claudia Béu Volpato et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

(2009) Christian Wider et al.   JOURNAL OF NEUROLOGY

Tissue-specific mRNA Expression Profiles of Human Solute Carrier Transporter Superfamilies

(2008) Masuhiro Nishimura et al.   Drug Metabolism and Pharmacokinetics