Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 95

1.

Changes in object recognition and anxiety-like behaviour in mice expressing a Cx47 mutation that causes Pelizaeus-Merzbacher-like disease.

Zlomuzica A, Tress O, Binder S, Rovira C, Willecke K, Dere E.

Dev Neurosci. 2012;34(2-3):277-87. Epub 2012 Jul 20.

PMID:
22832166
2.

Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.

Tress O, Maglione M, Zlomuzica A, May D, Dicke N, Degen J, Dere E, Kettenmann H, Hartmann D, Willecke K.

PLoS Genet. 2011 Jul;7(7):e1002146. doi: 10.1371/journal.pgen.1002146. Epub 2011 Jul 7.

3.

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.

Ann Neurol. 2010 Aug;68(2):250-4. doi: 10.1002/ana.22022.

PMID:
20695017
4.
5.

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J.

Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10. Erratum in: Am J Hum Genet. 2004 Oct;5(4):737.

6.

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M.

Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6.

7.

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.

Neurology. 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19.

PMID:
18094336
8.

A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.

Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T.

J Neurol Sci. 2013 Jul 15;330(1-2):123-6. doi: 10.1016/j.jns.2013.04.017. Epub 2013 May 16.

PMID:
23684670
9.

Panglial gap junctional communication is essential for maintenance of myelin in the CNS.

Tress O, Maglione M, May D, Pivneva T, Richter N, Seyfarth J, Binder S, Zlomuzica A, Seifert G, Theis M, Dere E, Kettenmann H, Willecke K.

J Neurosci. 2012 May 30;32(22):7499-518. doi: 10.1523/JNEUROSCI.0392-12.2012.

10.

Behavioral alterations and changes in Ca/calmodulin kinase II levels in the striatum of connexin36 deficient mice.

Zlomuzica A, Viggiano D, Degen J, Binder S, Ruocco LA, Sadile AG, Willecke K, Huston JP, Dere E.

Behav Brain Res. 2012 Jan 1;226(1):293-300. doi: 10.1016/j.bbr.2011.08.028. Epub 2011 Aug 25.

PMID:
21889545
11.

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS.

Mol Cell Neurosci. 2007 Apr;34(4):629-41. Epub 2007 Jan 25.

12.

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS.

Neuropediatrics. 2012 Jun;43(3):159-61. doi: 10.1055/s-0032-1313912. Epub 2012 May 19.

PMID:
22610664
13.

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

Combes P, Kammoun N, Monnier A, Gonthier-Guéret C, Giraud G, Bertini E, Chahnez T, Fakhfakh F, Boespflug-Tanguy O, Vaurs-Barrière C.

Ann Neurol. 2012 Jan;71(1):146-8. doi: 10.1002/ana.22295. Epub 2011 Jan 18. No abstract available.

PMID:
21246605
14.

Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

Al-Yahyaee SA, Al-Kindi M, Jonghe PD, Al-Asmi A, Al-Futaisi A, Vriendt ED, Deconinck T, Chand P.

J Child Neurol. 2013 Nov;28(11):1467-1473. Epub 2012 Nov 8.

PMID:
23143715
15.

Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.

Schiza N, Sargiannidou I, Kagiava A, Karaiskos C, Nearchou M, Kleopa KA.

Hum Mol Genet. 2015 Apr 1;24(7):2049-64. doi: 10.1093/hmg/ddu725. Epub 2014 Dec 18.

PMID:
25524707
16.

Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Diekmann S, Henneke M, Burckhardt BC, Gärtner J.

Eur J Hum Genet. 2010 Sep;18(9):985-92. doi: 10.1038/ejhg.2010.61. Epub 2010 May 5.

17.

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.

Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.

PMID:
21959080
18.

Enhanced anxiety, depressive-like behaviour and impaired recognition memory in mice with reduced expression of the vesicular glutamate transporter 1 (VGLUT1).

Tordera RM, Totterdell S, Wojcik SM, Brose N, Elizalde N, Lasheras B, Del Rio J.

Eur J Neurosci. 2007 Jan;25(1):281-90.

PMID:
17241289
19.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D.

Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.

20.

Gap junction disorders of myelinating cells.

Kleopa KA, Orthmann-Murphy J, Sargiannidou I.

Rev Neurosci. 2010;21(5):397-419. Review.

PMID:
21280457

Supplemental Content

Support Center