320 related articles for article (PubMed ID: 26599395)
1. 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]
2. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
Sanchez-Contreras M; Baker MC; Finch NA; Nicholson A; Wojtas A; Wszolek ZK; Ross OA; Dickson DW; Rademakers R
Hum Mutat; 2014 Aug; 35(8):964-71. PubMed ID: 24796542
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.
Zarb Y; Weber-Stadlbauer U; Kirschenbaum D; Kindler DR; Richetto J; Keller D; Rademakers R; Dickson DW; Pasch A; Byzova T; Nahar K; Voigt FF; Helmchen F; Boss A; Aguzzi A; Klohs J; Keller A
Brain; 2019 Apr; 142(4):885-902. PubMed ID: 30805583
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G; Charbonnier C; de Lemos RR; Richard AC; Guillin O; Wallon D; Legati A; Geschwind D; Coppola G; Frebourg T; Campion D; de Oliveira JR; Hannequin D;
Am J Med Genet B Neuropsychiatr Genet; 2015 Oct; 168(7):586-94. PubMed ID: 26129893
[TBL] [Abstract][Full Text] [Related]
7. Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.
Arts FA; Velghe AI; Stevens M; Renauld JC; Essaghir A; Demoulin JB
J Cell Mol Med; 2015 Jan; 19(1):239-48. PubMed ID: 25292412
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Keller A; Westenberger A; Sobrido MJ; García-Murias M; Domingo A; Sears RL; Lemos RR; Ordoñez-Ugalde A; Nicolas G; da Cunha JE; Rushing EJ; Hugelshofer M; Wurnig MC; Kaech A; Reimann R; Lohmann K; Dobričić V; Carracedo A; Petrović I; Miyasaki JM; Abakumova I; Mäe MA; Raschperger E; Zatz M; Zschiedrich K; Klepper J; Spiteri E; Prieto JM; Navas I; Preuss M; Dering C; Janković M; Paucar M; Svenningsson P; Saliminejad K; Khorshid HR; Novaković I; Aguzzi A; Boss A; Le Ber I; Defer G; Hannequin D; Kostić VS; Campion D; Geschwind DH; Coppola G; Betsholtz C; Klein C; Oliveira JR
Nat Genet; 2013 Sep; 45(9):1077-82. PubMed ID: 23913003
[TBL] [Abstract][Full Text] [Related]
9. Pericytes in Primary Familial Brain Calcification.
Zarb Y; Franzoso FD; Keller A
Adv Exp Med Biol; 2019; 1147():247-264. PubMed ID: 31147881
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification.
Duan RN; Zhao DD; Liu YM; Yan CZ
Parkinsonism Relat Disord; 2021 Nov; 92():83-87. PubMed ID: 34736156
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW; Sørensen K; Fagerberg C; Bode M; Hertz JM
BMC Neurol; 2019 Apr; 19(1):60. PubMed ID: 30979360
[TBL] [Abstract][Full Text] [Related]
14. Platelet-derived growth factor signaling in pericytes promotes hypothalamic inflammation and obesity.
Okekawa A; Wada T; Onogi Y; Takeda Y; Miyazawa Y; Sasahara M; Tsuneki H; Sasaoka T
Mol Med; 2024 Feb; 30(1):21. PubMed ID: 38317079
[TBL] [Abstract][Full Text] [Related]
15. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
Batla A; Tai XY; Schottlaender L; Erro R; Balint B; Bhatia KP
Parkinsonism Relat Disord; 2017 Apr; 37():1-10. PubMed ID: 28162874
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Primary familial brain calcification: update on molecular genetics.
Taglia I; Bonifati V; Mignarri A; Dotti MT; Federico A
Neurol Sci; 2015 May; 36(5):787-94. PubMed ID: 25686613
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.
Wang C; Yao XP; Chen HT; Lai JH; Guo XX; Su HZ; Dong EL; Zhang QJ; Wang N; Chen WJ
J Hum Genet; 2017 Jul; 62(7):697-701. PubMed ID: 28298627
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]