Associated Papers
Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.
Lan SC et al.
Scientific Reports, 2025
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
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
Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism.
Ichikawa Y et al.
Human Genome Variation, 2019
Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
Koyama S et al.
Scientific Reports, 2017
Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells.
Takase N et al.
Scientific Reports, 2017
Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.
Larsen FT et al.
Journal of Molecular Neuroscience : Mn, 2017
Brain Calcification and Movement Disorders.
Kostić VS et al.
Current Neurology and Neuroscience Reports, 2017
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.
Kimura T et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016
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
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
Yamada M et al.
Neurology, 2014
[The causative gene of Parkinsonism and its medical treatment strategy].
Inden M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2014