Associated Papers
Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
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
Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature.
Baker L et al.
Case Reports in Genetics, 2025
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S et al.
Journal of the Neurological Sciences, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Role of phosphate transporter PiT-2 in the pathogenesis of primary brain calcification.
Inden M et al.
Biochemical and Biophysical Research Communications, 2023
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
A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate.
Paucar M et al.
Journal of the Neurological Sciences, 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