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Results: 1 to 20 of 101

1.

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.

PMID:
22669416
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP.

Eur J Paediatr Neurol. 2008 Jul;12(4):348-50. Epub 2007 Sep 18.

PMID:
17881259
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
21750683
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M.

Neurology. 2006 Jul 25;67(2):273-9. Epub 2006 May 17.

PMID:
16707726
[PubMed - indexed for MEDLINE]
5.

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.

Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.

Neurology. 2010 Jun 1;74(22):1785-9. doi: 10.1212/WNL.0b013e3181e0f820.

PMID:
20513814
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
9.

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.

Hobson GM, Garbern JY.

Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. Review.

PMID:
22422208
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.

Kim MS, Gloor GB, Bai D.

Biochem J. 2013 Jun 1;452(2):249-58. doi: 10.1042/BJ20121821.

PMID:
23544880
[PubMed - indexed for MEDLINE]
Free Article
12.

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation Study.

Gene. 2013 Jan 25;513(2):233-8. doi: 10.1016/j.gene.2012.10.070. Epub 2012 Nov 7.

PMID:
23142375
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
19056803
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.

Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y.

Brain Dev. 2010 Mar;32(3):236-43. doi: 10.1016/j.braindev.2009.03.013. Epub 2009 May 6.

PMID:
19423250
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
17344063
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A.

Neurogenetics. 2007 Jan;8(1):57-60. Epub 2006 Oct 10.

PMID:
17031678
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
20442743
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
15192806
[PubMed - indexed for MEDLINE]
Free PMC Article
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