Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
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
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
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene.
Sekine SI et al.
Stem Cell Research, 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
[The causative gene of Parkinsonism and its medical treatment strategy].
Inden M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2014
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