291 related articles for article (PubMed ID: 26129893)
21. 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]
22. Brain Calcification and Movement Disorders.
Kostić VS; Petrović IN
Curr Neurol Neurosci Rep; 2017 Jan; 17(1):2. PubMed ID: 28097511
[TBL] [Abstract][Full Text] [Related]
23. Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1).
Hozumi I; Kurita H; Ozawa K; Furuta N; Inden M; Sekine SI; Yamada M; Hayashi Y; Kimura A; Inuzuka T; Seishima M
J Neurol Sci; 2018 May; 388():150-154. PubMed ID: 29627011
[TBL] [Abstract][Full Text] [Related]
24. The Genetics of Primary Familial Brain Calcification: A Literature Review.
Chen SY; Ho CJ; Lu YT; Lin CH; Lan MY; Tsai MH
Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37446066
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
Pasanen P; Mäkinen J; Myllykangas L; Guerreiro R; Bras J; Valori M; Viitanen M; Baumann M; Tienari PJ; Pöyhönen M; Baumann P
Acta Neurol Scand; 2017 Jul; 136(1):59-63. PubMed ID: 27726124
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.
Bezerra DP; de Aguiar JP; Keasey MP; Rodrigues CG; de Oliveira JRM
J Mol Neurosci; 2021 Sep; 71(9):1897-1905. PubMed ID: 34041689
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Lemos RR; Ramos EM; Legati A; Nicolas G; Jenkinson EM; Livingston JH; Crow YJ; Campion D; Coppola G; Oliveira JR
Hum Mutat; 2015 May; 36(5):489-95. PubMed ID: 25726928
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Identification of SLC20A2 deletions in patients with primary familial brain calcification.
Guo XX; Su HZ; Zou XH; Lai LL; Lu YQ; Wang C; Li YL; Hong JM; Zhao M; Lin KX; Lin J; Zeng YH; Yao XP; Wang N; Chen WJ
Clin Genet; 2019 Jul; 96(1):53-60. PubMed ID: 30891739
[TBL] [Abstract][Full Text] [Related]
34. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Balck A; Schaake S; Kuhnke NS; Domingo A; Madoev H; Margolesky J; Dobricic V; Alvarez-Fischer D; Laabs BH; Kasten M; Luo W; Nicolas G; Marras C; Lohmann K; Klein C; Westenberger A
Mov Disord; 2021 Nov; 36(11):2468-2480. PubMed ID: 34432325
[TBL] [Abstract][Full Text] [Related]
35. SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report.
Li M; Fu Q; Xiang L; Zheng Y; Ping W; Cao Y
BMC Neurol; 2022 Nov; 22(1):438. PubMed ID: 36397039
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
Chen WJ; Yao XP; Zhang QJ; Ni W; He J; Li HF; Liu XY; Zhao GX; Murong SX; Wang N; Wu ZY
Gene; 2013 Oct; 529(1):159-62. PubMed ID: 23939468
[TBL] [Abstract][Full Text] [Related]
38. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Cen Z; Chen Y; Chen S; Wang H; Yang D; Zhang H; Wu H; Wang L; Tang S; Ye J; Shen J; Wang H; Fu F; Chen X; Xie F; Liu P; Xu X; Cao J; Cai P; Pan Q; Li J; Yang W; Shan PF; Li Y; Liu JY; Zhang B; Luo W
Brain; 2020 Feb; 143(2):491-502. PubMed ID: 31851307
[TBL] [Abstract][Full Text] [Related]
39. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.
Grütz K; Volpato CB; Domingo A; Alvarez-Fischer D; Gebert U; Schifferle G; Buffone E; Wszolek ZK; Rademakers R; Ferbert A; Hicks AA; Klein C; Pramstaller PP; Westenberger A
Mov Disord; 2016 Dec; 31(12):1901-1904. PubMed ID: 27671522
[TBL] [Abstract][Full Text] [Related]
40. A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter.
Lee BD; Kong JY; Kwon CH; Park JM; Lee YM; Moon E; Jeong HJ; Kim SY; Lee KY; Suh H
Medicine (Baltimore); 2018 Oct; 97(42):e12918. PubMed ID: 30335026
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]