Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.
Lan SC et al.
Scientific Reports, 2025
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Ahn JH et al.
Parkinsonism & Related Disorders, 2023
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
The Genetics of Primary Familial Brain Calcification: A Literature Review.
Chen SY et al.
International Journal of Molecular Sciences, 2023
Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.
Salamon A et al.
Metabolic Brain Disease, 2021
Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.
Shen Y et al.
Frontiers in Genetics, 2021
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
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX et al.
Human Mutation, 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 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
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
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
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G et al.
Brain : a Journal of Neurology, 2013
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
Chen WJ et al.
Gene, 2013
Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2.
Bøttger P et al.
The Febs Journal, 2005