Primary Familial Brain Calcification
What's New
Last Posted: Jul 20, 2024
- Non-Motor Symptoms in Primary Familial Brain Calcification.
Giulia Bonato, et al. Journal of clinical medicine 2024 0 (13) - Novel findings in a Swedish primary familial brain calcification cohort.
Stefan Sennfält, et al. Journal of the neurological sciences 2024 0 123020 - Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Maha Yektay Farahmand, et al. Neurologia i neurochirurgia polska 2023 0 - Identification of SLC20A2 deletions in patients with primary familial brain calcification.
Guo Xin-Xin, et al. Clinical genetics 2019 0 (1) 53-60 - Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.
Mu Weiyi, et al. BMJ case reports 2019 0 (5) - Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.
Chen Shih-Ying, et al. BMC neurology 2020 0 (1) 329 - The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume Kodai, et al. Journal of human genetics 2020 0 (10) 917-920 - MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban Viorica, et al. Neurology. Genetics 2020 0 (2) e399 - Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo Xin-Xin, et al. Human mutation 2019 0 (4) 392-403 - MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
Chen You, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (4) 679-686
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- Page last reviewed:Feb 1, 2024
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