Associated Papers
Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
Sun H et al.
Neuroscience Bulletin, 2023
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
Lamquet S et al.
Annals of Clinical and Translational Neurology, 2019
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D et al.
Orphanet Journal of Rare Diseases, 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
Primary familial brain calcification: Genetic analysis and clinical spectrum.
Taglia I et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
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