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Items: 1 to 20 of 197

1.

Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.

Zhang Y, Guo X, Wu A.

PLoS One. 2013;8(2):e57060. doi: 10.1371/journal.pone.0057060. Epub 2013 Feb 20.

2.

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 15;529(1):159-62. doi: 10.1016/j.gene.2013.07.071. Epub 2013 Aug 11.

PMID:
23939468
3.

[Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene].

Zhu M, Fang C, Li X, Zhou M, Wan H, Hong D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):64-8. doi: 10.3760/cma.j.issn.1003-9406.2015.01.014. Chinese.

PMID:
25636102
4.

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.

Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, Ishiura H, Mitsui J, Atsuta N, Sobue G, Shimozawa N, Inuzuka T, Tsuji S, Hozumi I.

Neurology. 2014 Feb 25;82(8):705-12. doi: 10.1212/WNL.0000000000000143. Epub 2014 Jan 24.

PMID:
24463626
5.
6.

Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.

Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, Musarra M, Patassini M, Annesi G, Ferrarese C.

Neurodegener Dis. 2014;14(3):133-8. doi: 10.1159/000365216. Epub 2014 Sep 25.

PMID:
25348593
7.

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 15;568(1):109-11. doi: 10.1016/j.gene.2015.05.005. Epub 2015 May 7.

PMID:
25958344
8.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G.

Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

9.

PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy.

Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, Landemore G, Chapon F, Prieto-Morin C, Tournier-Lasserve E, Frébourg T, Campion D, Hannequin D.

J Mol Neurosci. 2014 Jun;53(2):171-5. doi: 10.1007/s12031-014-0265-z. Epub 2014 Mar 7.

PMID:
24604296
10.

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group.

Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24.

PMID:
24065723
11.

Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

Jensen N, Schrøder HD, Hejbøl EK, Füchtbauer EM, de Oliveira JR, Pedersen L.

J Mol Neurosci. 2013 Nov;51(3):994-9. doi: 10.1007/s12031-013-0085-6. Epub 2013 Aug 10.

12.

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.

Kimura T, Miura T, Aoki K, Saito S, Hondo H, Konno T, Uchiyama A, Ikeuchi T, Takahashi H, Kakita A.

Neuropathology. 2016 Aug;36(4):365-71. doi: 10.1111/neup.12280. Epub 2015 Dec 4.

PMID:
26635128
13.

Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.

Lemos RR, Oliveira MF, Oliveira JR.

Eur J Neurol. 2013 Mar;20(3):e43-4. doi: 10.1111/ene.12044. No abstract available. Erratum in: Eur J Neurol. 2013 Sep;20(9):e117.

PMID:
23406454
14.

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. doi: 10.1007/s10048-013-0378-5. Epub 2013 Oct 18.

15.

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification.

Nicolas G, Richard AC, Pottier C, Verny C, Durif F, Roze E, Favrole P, Rudolf G, Anheim M, Tranchant C, Frebourg T, Campion D, Hannequin D.

Neurogenetics. 2014 Aug;15(3):215-6. doi: 10.1007/s10048-014-0404-2. Epub 2014 Apr 27. No abstract available.

PMID:
24770784
16.

Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia.

Zhu M, Zhu X, Wan H, Hong D.

Parkinsonism Relat Disord. 2014 Mar;20(3):353-4. doi: 10.1016/j.parkreldis.2013.12.006. Epub 2013 Dec 28. No abstract available.

PMID:
24411498
17.

Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification.

Liu X, Ma G, Zhao Z, Mao F, Tang J, Li X, Zhu M.

J Neurol Sci. 2016 Jan 15;360:1-3. doi: 10.1016/j.jns.2015.11.036. Epub 2015 Nov 23. No abstract available.

PMID:
26723961
18.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY.

Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.

PMID:
22327515
19.

First report of a de novo mutation at SLC20A2 in a patient with brain calcification.

Ferreira JB, Pimentel L, Keasey MP, Lemos RR, Santos LM, Oliveira MF, Santos S, Jensen N, Teixeira K, Pedersen L, Rocha CR, Dias da Silva MR, Oliveira JR.

J Mol Neurosci. 2014 Dec;54(4):748-51. doi: 10.1007/s12031-014-0357-9. Epub 2014 Jun 27.

PMID:
24969325
20.

[Molecular mechanism of idiopathic basal ganglia calcification].

Wang C, Xu X, Li L, Wang T, Zhang M, Shen L, Tang B, Liu J.

Yi Chuan. 2015 Aug;37(8):731-40. Review. Chinese.

PMID:
26353387

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