Associated Papers
First case of Fahr's disease with homozygous mutations of SLC20A2, among the Libyan children.
Sufrani MA
Bmc Pediatrics, 2026
The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.
Lin Z et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Role of phosphate transporter PiT-2 in the pathogenesis of primary brain calcification.
Inden M et al.
Biochemical and Biophysical Research Communications, 2023
Ischemic stroke in a patient with Fahr's disease carrying biallelic mutations in the MYORG gene.
Li Y et al.
Neurosciences (riyadh, Saudi Arabia), 2022
Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification.
Nishii K et al.
Scientific Reports, 2019
Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report.
Kobayashi S et al.
World Journal of Clinical Cases, 2019
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.
Sekine SI et al.
Scientific Reports, 2019
SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs.
Sekine SI et al.
Biochemical and Biophysical Research Communications, 2019
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
Lamquet S et al.
Annals of Clinical and Translational Neurology, 2019
SCL20A2 mutation presenting with acute ischemic stroke: a case report.
Zhang X et al.
Bmc Neurology, 2018
Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells.
Takase N et al.
Scientific Reports, 2017
Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease.
Takeuchi T et al.
Springerplus, 2016
Primary familial brain calcification: update on molecular genetics.
Taglia I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Lemos RR et al.
Human Mutation, 2015
The genetics of primary familial brain calcifications.
Westenberger A et al.
Current Neurology and Neuroscience Reports, 2014
[The causative gene of Parkinsonism and its medical treatment strategy].
Inden M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2014