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Items: 1 to 20 of 109

1.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR.

Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

PMID:
23913003
2.

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 Nov 23;10(11):e0143407. doi: 10.1371/journal.pone.0143407. eCollection 2015.

3.

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. doi: 10.1002/humu.22582. Epub 2014 Jun 3.

4.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Nicolas G, Jacquin A, Thauvin-Robinet C, Rovelet-Lecrux A, Rouaud O, Pottier C, Aubriot-Lorton MH, Rousseau S, Wallon D, Duvillard C, Béjot Y, Frébourg T, Giroud M, Campion D, Hannequin D.

Eur J Hum Genet. 2014 Oct;22(10):1236-8. doi: 10.1038/ejhg.2014.9. Epub 2014 Feb 12.

5.

Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.

Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB.

J Cell Mol Med. 2015 Jan;19(1):239-48. doi: 10.1111/jcmm.12443. Epub 2014 Oct 8.

6.

PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC).

Betsholtz C, Keller A.

Brain Pathol. 2014 Jul;24(4):387-95. doi: 10.1111/bpa.12158. Review.

PMID:
24946076
7.

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.

Hayashi T, Legati A, Nishikawa T, Coppola G.

Psychiatry Clin Neurosci. 2015 Feb;69(2):77-83. doi: 10.1111/pcn.12238. Epub 2014 Oct 17.

8.

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.

Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.

PMID:
23255827
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.

The genetics of primary familial brain calcifications.

Westenberger A, Klein C.

Curr Neurol Neurosci Rep. 2014 Oct;14(10):490. doi: 10.1007/s11910-014-0490-4. Review.

PMID:
25212438
11.

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
12.

A new gene for Fahr's syndrome-PDGF-B.

Batla A, Bhatia KP.

Mov Disord. 2014 Mar;29(3):307. doi: 10.1002/mds.25788. Epub 2014 Jan 3. No abstract available.

PMID:
24390807
13.

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
14.

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.

15.

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
16.

[Molecular mechanism of idiopathic basal ganglia calcification].

Wang C, Xu X, Li LL, Wang T, Zhang M, Shen L, Tang BS, Liu JY.

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

PMID:
26353387
17.

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.

18.

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group.

Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30.

PMID:
26129893
19.

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.

20.

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

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