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
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
Koyama S et al.
Scientific 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
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.
Hayashi T et al.
Psychiatry and Clinical Neurosciences, 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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