370 related articles for article (PubMed ID: 31851307)
21. 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]
22. A novel mutation in
Gao L; Chen J; Dong H; Li X
Int J Neurosci; 2022 Dec; 132(12):1182-1186. PubMed ID: 33372568
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM; Carecchio M; Lemos R; Ferreira J; Legati A; Sears RL; Hsu SC; Panteghini C; Magistrelli L; Salsano E; Esposito S; Taroni F; Richard AC; Tranchant C; Anheim M; Ayrignac X; Goizet C; Vidailhet M; Maltete D; Wallon D; Frebourg T; Pimentel L; Geschwind DH; Vanakker O; Galasko D; Fogel BL; Innes AM; Ross A; Dobyns WB; Alcantara D; O'Driscoll M; Hannequin D; Campion D; ; Oliveira JR; Garavaglia B; Coppola G; Nicolas G
Eur J Hum Genet; 2018 Oct; 26(10):1462-1477. PubMed ID: 29955172
[TBL] [Abstract][Full Text] [Related]
25. Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Monfrini E; Arienti F; Rinchetti P; Lotti F; Riboldi GM
Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37240341
[TBL] [Abstract][Full Text] [Related]
26. Primary Familial Brain Calcification Caused by a Novel Compound Heterozygous Mutation in the MYORG Gene.
Tsai MC; Lee JT; Sung YF; Yang FC
Acta Neurol Taiwan; 2022 Mar; 31(2)():77-79. PubMed ID: 35266134
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. 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]
30. Primary familial brain calcification: Genetic analysis and clinical spectrum.
Taglia I; Mignarri A; Olgiati S; Menci E; Petrocelli PL; Breedveld GJ; Scaglione C; Martinelli P; Federico A; Bonifati V; Dotti MT
Mov Disord; 2014 Nov; 29(13):1691-5. PubMed ID: 25284758
[TBL] [Abstract][Full Text] [Related]
31. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
Huang YT; Zhang LH; Li MF; Cheng L; Zou GY; Zhou HH
Brain Res Bull; 2019 Aug; 150():261-265. PubMed ID: 30634018
[TBL] [Abstract][Full Text] [Related]
32. Primary familial brain calcification in a patient with a novel compound heterozygous mutation in
Yang Q; Li J; Jiao B; Weng L
Ann Transl Med; 2022 Apr; 10(7):423. PubMed ID: 35530931
[TBL] [Abstract][Full Text] [Related]
33. New Evidence Suggests a Much Complex Classification for the Genetic Pattern of Inheritance in Primary Brain Calcification.
Gomes BV; de Oliveira JRM
J Mol Neurosci; 2023 Aug; 73(7-8):563-565. PubMed ID: 37420094
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.
Chen SY; Lin WC; Chang YY; Lin TK; Lan MY
BMC Neurol; 2020 Sep; 20(1):329. PubMed ID: 32873236
[TBL] [Abstract][Full Text] [Related]
36. The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume K; Takata T; Morino H; Matsuda Y; Ohsawa R; Tada Y; Kurashige T; Kawakami H
J Hum Genet; 2020 Oct; 65(10):917-920. PubMed ID: 32451491
[TBL] [Abstract][Full Text] [Related]
37. Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis.
Maheshwari U; Mateos JM; Weber-Stadlbauer U; Ni R; Tamatey V; Sridhar S; Restrepo A; de Jong PA; Huang SF; Schaffenrath J; Stifter SA; Szeri F; Greter M; Koek HL; Keller A
Brain Pathol; 2023 Nov; 33(6):e13189. PubMed ID: 37505935
[TBL] [Abstract][Full Text] [Related]
38. XPR1 mutations are a rare cause of primary familial brain calcification.
Anheim M; López-Sánchez U; Giovannini D; Richard AC; Touhami J; N'Guyen L; Rudolf G; Thibault-Stoll A; Frebourg T; Hannequin D; Campion D; Battini JL; Sitbon M; Nicolas G
J Neurol; 2016 Aug; 263(8):1559-64. PubMed ID: 27230854
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
Gagliardi M; Morelli M; Annesi G; Nicoletti G; Perrotta P; Pustorino G; Iannello G; Tarantino P; Gambardella A; Quattrone A
Gene; 2015 Aug; 568(1):109-11. PubMed ID: 25958344
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
