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
A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification.
Duan RN et al.
Parkinsonism & Related Disorders, 2021
Pericytes in Primary Familial Brain Calcification.
Zarb Y et al.
Advances in Experimental Medicine and Biology, 2019
Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
Koyama S et al.
Scientific Reports, 2017
Brain Calcification and Movement Disorders.
Kostić VS et al.
Current Neurology and Neuroscience Reports, 2017
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
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.
Nicolas G et al.
European Journal of Human Genetics : Ejhg, 2014
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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