Associated Papers
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Yektay Farahmand M et al.
Neurologia I Neurochirurgia Polska, 2024
Seronegative neuromyelitis optica spectrum disorder in primary familial brain calcification with PDGFB variant.
Biyajima M et al.
Eneurologicalsci, 2022
A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification.
Duan RN et al.
Parkinsonism & Related Disorders, 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
Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Zhan FX et al.
Neuroscience Letters, 2020
Pericytes in Primary Familial Brain Calcification.
Zarb Y et al.
Advances in Experimental Medicine and Biology, 2019
Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.
Paucar M et al.
Neurology. Genetics, 2016
27433546 (PubMed )
Supplement: supp_2.4.e84_Tables_e-1-e-11.pdf
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
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.
Vanlandewijck M et al.
Plos One, 2015
The genetics of primary familial brain calcifications.
Westenberger A et al.
Current Neurology and Neuroscience Reports, 2014
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Keller A et al.
Nature Genetics, 2013
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