115 related articles for article (PubMed ID: 38760510)
1. Exploring the Biological Overlapping Between Brain Calcifications and Tumorgenesis.
de Godoy ES; de Oliveira JRM
J Mol Neurosci; 2024 May; 74(2):54. PubMed ID: 38760510
[TBL] [Abstract][Full Text] [Related]
2. An update on primary familial brain calcification.
Lemos RR; Ferreira JB; Keasey MP; Oliveira JR
Int Rev Neurobiol; 2013; 110():349-71. PubMed ID: 24209445
[TBL] [Abstract][Full Text] [Related]
3. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon L; Wallon D; Charbonnier C; Quenez O; Richard AC; Rousseau S; Budowski C; Lebouvier T; Corbille AG; Vidailhet M; Méneret A; Roze E; Anheim M; Tranchant C; Favrole P; Antoine JC; Defebvre L; Ayrignac X; Labauge P; Pariente J; Clanet M; Maltête D; Rovelet-Lecrux A; Boland A; Deleuze JF; ; Frebourg T; Hannequin D; Campion D; Nicolas G
Brain; 2019 Jun; 142(6):1573-1586. PubMed ID: 31009047
[TBL] [Abstract][Full Text] [Related]
4. Primary familial brain calcifications: genetic and clinical update.
Westenberger A; Balck A; Klein C
Curr Opin Neurol; 2019 Aug; 32(4):571-578. PubMed ID: 31157644
[TBL] [Abstract][Full Text] [Related]
5. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
Nicolas G; Charbonnier C; Campion D; Veltman JA
Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):68-74. PubMed ID: 29152850
[TBL] [Abstract][Full Text] [Related]
6. Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
Yao XP; Zhao M; Wang C; Guo XX; Su HZ; Dong EL; Chen HT; Lai JH; Liu YB; Wang N; Chen WJ
Cell Tissue Res; 2017 Nov; 370(2):267-273. PubMed ID: 28766044
[TBL] [Abstract][Full Text] [Related]
7. Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients.
Borges-Medeiros RL; de Oliveira JRM
J Mol Neurosci; 2020 Jan; 70(1):142-144. PubMed ID: 31768941
[TBL] [Abstract][Full Text] [Related]
8. Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.
Vanlandewijck M; Lebouvier T; Andaloussi Mäe M; Nahar K; Hornemann S; Kenkel D; Cunha SI; Lennartsson J; Boss A; Heldin CH; Keller A; Betsholtz C
PLoS One; 2015; 10(11):e0143407. PubMed ID: 26599395
[TBL] [Abstract][Full Text] [Related]
9. First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.
Hayashi T; Legati A; Nishikawa T; Coppola G
Psychiatry Clin Neurosci; 2015 Feb; 69(2):77-83. PubMed ID: 25211641
[TBL] [Abstract][Full Text] [Related]
10. Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.
Locci S; Bianchi S; De Stefano N; Mignarri A
Neurol Sci; 2022 Oct; 43(10):6091-6093. PubMed ID: 35750946
[TBL] [Abstract][Full Text] [Related]
11. The genetics of primary familial brain calcifications.
Westenberger A; Klein C
Curr Neurol Neurosci Rep; 2014 Oct; 14(10):490. PubMed ID: 25212438
[TBL] [Abstract][Full Text] [Related]
12. Astrocyte-microglial association and matrix composition are common events in the natural history of primary familial brain calcification.
Nahar K; Lebouvier T; Andaloussi Mäe M; Konzer A; Bergquist J; Zarb Y; Johansson B; Betsholtz C; Vanlandewijck M
Brain Pathol; 2020 May; 30(3):446-464. PubMed ID: 31561281
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX; Zou XH; Wang C; Yao XP; Su HZ; Lai LL; Chen HT; Lai JH; Liu YB; Chen DP; Deng YC; Lin P; Lin HS; Hong BC; Yao QY; Chen XJ; Huang DQ; Fu HX; Peng JD; Niu YF; Zhao YY; Zhu XQ; Lu XP; Lin HL; Li YK; Liu CY; Huang GB; Wang N; Chen WJ
Hum Mutat; 2019 Apr; 40(4):392-403. PubMed ID: 30609140
[TBL] [Abstract][Full Text] [Related]
14. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.
Taglia I; Formichi P; Battisti C; Peppoloni G; Barghigiani M; Tessa A; Federico A
J Cell Physiol; 2018 Mar; 233(3):2324-2331. PubMed ID: 28722801
[TBL] [Abstract][Full Text] [Related]
15. XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.
Moura DA; Oliveira JR
J Mol Neurosci; 2015 Dec; 57(4):519-21. PubMed ID: 26231937
[TBL] [Abstract][Full Text] [Related]
16. Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Yektay Farahmand M; Wasselius J; Englund E; Braverman I; Puschmann A; Ilinca A
Neurol Neurochir Pol; 2024; 58(1):94-105. PubMed ID: 38156729
[TBL] [Abstract][Full Text] [Related]
17. Report of a young patient with brain calcifications with a novel homozygous MYORG variant.
Sadok SH; Borges-Medeiros RL; de Oliveira DF; Zatz M; de Oliveira JRM
Gene; 2023 Apr; 859():147213. PubMed ID: 36690225
[TBL] [Abstract][Full Text] [Related]
18. Clinical and radiological diversity in genetically confirmed primary familial brain calcification.
Koyama S; Sato H; Kobayashi R; Kawakatsu S; Kurimura M; Wada M; Kawanami T; Kato T
Sci Rep; 2017 Sep; 7(1):12046. PubMed ID: 28935882
[TBL] [Abstract][Full Text] [Related]
19. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.
Sun H; Cao Z; Gao R; Li Y; Chen R; Du S; Ma T; Wang J; Xu X; Liu JY
Mol Genet Genomic Med; 2021 May; 9(5):e1670. PubMed ID: 33793087
[TBL] [Abstract][Full Text] [Related]
20. Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses.
Zhan FX; Tian WT; Zhang C; Zhu ZY; Wang SG; Huang XJ; Cao L
Neurosci Lett; 2020 Jan; 714():134543. PubMed ID: 31618668
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
