Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Yektay Farahmand M et al.
Neurologia I Neurochirurgia Polska, 2024
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant.
Shen J et al.
Neurology. Genetics, 2022
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
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
A novel nucleolar G-protein conserved in eukaryotes.
Park JH et al.
Journal of Cell Science, 2001
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