PubMed for Bookshelf ID: 1461944

Year	Number of Results
1951	1
1960	1
1971	1
1977	1
1980	1
1983	1
1985	3
1989	1
1992	2
1994	3
1995	1
1996	1
1997	1
1998	1
1999	1
2001	3
2002	1
2003	1
2004	1
2005	3
2006	2
2007	1
2008	1
2009	4
2010	3
2011	2
2012	7
2013	8
2014	6
2015	4
2016	9
2017	5
2024	0

1

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. Batla A, et al. Parkinsonism Relat Disord. 2017 Apr;37:1-10. doi: 10.1016/j.parkreldis.2016.12.024. Epub 2016 Dec 27. Parkinsonism Relat Disord. 2017. PMID: 28162874 Review.

2

Review of Hypoparathyroidism.

Abate EG, Clarke BL. Abate EG, et al. Front Endocrinol (Lausanne). 2017 Jan 16;7:172. doi: 10.3389/fendo.2016.00172. eCollection 2016. Front Endocrinol (Lausanne). 2017. PMID: 28138323 Free PMC article. Review.

3

Platelet-derived growth factor receptors (PDGFRs) fusion genes involvement in hematological malignancies.

Appiah-Kubi K, Lan T, Wang Y, Qian H, Wu M, Yao X, Wu Y, Chen Y. Appiah-Kubi K, et al. Crit Rev Oncol Hematol. 2017 Jan;109:20-34. doi: 10.1016/j.critrevonc.2016.11.008. Epub 2016 Nov 21. Crit Rev Oncol Hematol. 2017. PMID: 28010895 Review.

4

Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.

Larsen FT, Jensen N, Autzen JK, Kongsfelt IB, Pedersen L. Larsen FT, et al. J Mol Neurosci. 2017 Feb;61(2):215-220. doi: 10.1007/s12031-016-0868-7. Epub 2016 Dec 9. J Mol Neurosci. 2017. PMID: 27943094 Free PMC article.

5

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. Pasanen P, et al. Acta Neurol Scand. 2017 Jul;136(1):59-63. doi: 10.1111/ane.12697. Epub 2016 Oct 10. Acta Neurol Scand. 2017. PMID: 27726124

6

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. Grütz K, et al. Mov Disord. 2016 Dec;31(12):1901-1904. doi: 10.1002/mds.26768. Epub 2016 Sep 27. Mov Disord. 2016. PMID: 27671522

7

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. David S, et al. Eur J Hum Genet. 2016 Nov;24(11):1630-1634. doi: 10.1038/ejhg.2016.50. Epub 2016 Jun 1. Eur J Hum Genet. 2016. PMID: 27245298 Free PMC article.

8

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. Anheim M, et al. J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26. J Neurol. 2016. PMID: 27230854

9

Diffuse neurofibrillary tangles with calcification (Kosaka-Shibayama disease) in Japan.

Ukai K, Kosaka K. Ukai K, et al. Psychiatry Clin Neurosci. 2016 Mar;70(3):131-40. doi: 10.1111/pcn.12334. Epub 2015 Aug 19. Psychiatry Clin Neurosci. 2016. PMID: 26176797 Free article. Review.

10

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.

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