Associated Papers
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
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
Lamquet S et al.
Annals of Clinical and Translational Neurology, 2019
Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.
Pimentel LF 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
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.
Lemos RR et al.
European Journal of Neurology, 2013
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