Associated Papers
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S et al.
Journal of the Neurological Sciences, 2024
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
A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate.
Paucar M et al.
Journal of the Neurological Sciences, 2017
Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.
Paucar M et al.
Neurology. Genetics, 2016
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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