233 related articles for article (PubMed ID: 31501477)
1. Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Giorgio E; Garelli E; Carando A; Bellora S; Rubino E; Quarello P; Sirchia F; Marrama F; Gallone S; Grosso E; Pasini B; Massa R; Brussino A; Brusco A
J Hum Genet; 2019 Nov; 64(11):1083-1090. PubMed ID: 31501477
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.
Chen S; Cen Z; Fu F; Chen Y; Chen X; Yang D; Wang H; Wu H; Zheng X; Xie F; Ouyang Z; Tang W; Zhang S; Yin L; Zhang Y; Meng P; Zhu X; Zhang H; Jiang F; Zhang K; He J; Zhang D; Ming H; Song D; Zhou Z; Luo Y; Gu Q; Su Y; Wu X; Tang H; Wu C; Chen W; Liu JY; Luo W;
Parkinsonism Relat Disord; 2019 Jul; 64():211-219. PubMed ID: 31003906
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Magistrelli L; Croce R; De Marchi F; Basagni C; Carecchio M; Nasuelli N; Cantello R; Invernizzi F; Garavaglia B; Comi C; Mazzini L; D'Alfonso S; Corrado L
Neurogenetics; 2021 Mar; 22(1):65-70. PubMed ID: 33471268
[TBL] [Abstract][Full Text] [Related]
14. Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.
Pimentel LF; Lemos RR; Oliveira JR
J Mol Neurosci; 2017 Aug; 62(3-4):276-280. PubMed ID: 28578517
[TBL] [Abstract][Full Text] [Related]
15. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.
David S; Ferreira J; Quenez O; Rovelet-Lecrux A; Richard AC; Vérin M; Jurici S; Le Ber I; Boland A; Deleuze JF; Frebourg T; Mendes de Oliveira JR; Hannequin D; Campion D; Nicolas G
Eur J Hum Genet; 2016 Nov; 24(11):1630-1634. PubMed ID: 27245298
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
Fjaer R; Brodtkorb E; Øye AM; Sheng Y; Vigeland MD; Kvistad KA; Backe PH; Selmer KK
Eur J Med Genet; 2015 Nov; 58(11):624-8. PubMed ID: 26475232
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
Baker M; Strongosky AJ; Sanchez-Contreras MY; Yang S; Ferguson W; Calne DB; Calne S; Stoessl AJ; Allanson JE; Broderick DF; Hutton ML; Dickson DW; Ross OA; Wszolek ZK; Rademakers R
Neurogenetics; 2014 Mar; 15(1):23-30. PubMed ID: 24135862
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]