Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.
López-Sánchez U et al.
The Journal of Biological Chemistry, 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
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
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
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
Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells.
Takase N et al.
Scientific Reports, 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
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.
Brighina L et al.
Neuro-degenerative Diseases, 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