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Results: 1 to 20 of 155

1.

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
2.

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]
3.

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]
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.

Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.

Ruf N, Uhlenberg B.

Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):226-32. doi: 10.1002/ajmg.b.30792.

PMID:
18521858
[PubMed - indexed for MEDLINE]
6.

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]
7.

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]
8.

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.

Hum Mutat. 2008 Aug;29(8):1028-36. doi: 10.1002/humu.20758.

PMID:
18470932
[PubMed - indexed for MEDLINE]
9.

Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy.

Ruf N, Martelli M, Weschke B, Uhlenberg B.

Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):365-6.

PMID:
17171653
[PubMed - indexed for MEDLINE]
10.

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H.

Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19.

PMID:
18571143
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

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]
13.

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
14.

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.

Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D.

Neuropediatrics. 2003 Jun;34(3):127-36.

PMID:
12910435
[PubMed - indexed for MEDLINE]
15.

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]
16.

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ.

Neurogenetics. 2007 Jan;8(1):39-44. Epub 2006 Sep 13.

PMID:
16969684
[PubMed - indexed for MEDLINE]
17.

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]
18.

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
19.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.

Clin Genet. 2013 Jan;83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20.

PMID:
22283455
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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

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