Associated Papers
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.
Emmi A et al.
Annals of Clinical and Translational Neurology, 2025
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Arteche-López A et al.
European Journal of Human Genetics : Ejhg, 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
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
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
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
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