Associated Papers
Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40970454 (PubMed )
Supplement: supplement_1.pdf
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
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 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
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