Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
Sun H et al.
Neuroscience Bulletin, 2023
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Balck A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.
Sun H et al.
Molecular Genetics & Genomic Medicine, 2021
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Zhan FX et al.
Neuroscience Letters, 2020
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
Identification of SLC20A2 deletions in patients with primary familial brain calcification.
Guo XX et al.
Clinical Genetics, 2019
Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.
Chen S et al.
Parkinsonism & Related Disorders, 2019
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
Lamquet S et al.
Annals of Clinical and Translational Neurology, 2019
Pericytes in Primary Familial Brain Calcification.
Zarb Y et al.
Advances in Experimental Medicine and Biology, 2019
A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.
Ding Y et al.
Chinese Medical Journal, 2018
PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B.
Ma XX 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
Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification.
Liu X et al.
Journal of the Neurological Sciences, 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
Novel mutation of SLC20A2 in an Italian patient presenting with migraine.
Rubino E et al.
Journal of Neurology, 2014
The genetics of primary familial brain calcifications.
Westenberger A et al.
Current Neurology and Neuroscience Reports, 2014
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
Chen WJ et al.
Gene, 2013
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Wang C et al.
Nature Genetics, 2012