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Items: 1 to 20 of 22

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.

2.

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
3.

The molecular pathogenesis of Pelizaeus-Merzbacher disease.

Garbern J, Cambi F, Shy M, Kamholz J.

Arch Neurol. 1999 Oct;56(10):1210-4. Review.

PMID:
10520936
4.

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.

Woodward KJ.

Expert Rev Mol Med. 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. Review.

PMID:
18485258
5.

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.

Garbern JY.

Cell Mol Life Sci. 2007 Jan;64(1):50-65. Review.

PMID:
17115121
6.

Pelizaeus-Merzbacher disease.

Koeppen AH, Robitaille Y.

J Neuropathol Exp Neurol. 2002 Sep;61(9):747-59. Review.

PMID:
12230321
7.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
8.

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK, Scherer SS.

Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16. Review.

9.

Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene.

Southwood C, Gow A.

Microsc Res Tech. 2001 Mar 15;52(6):700-8. Review.

PMID:
11276122
10.

Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system.

Garbern JY.

J Neurol Sci. 2005 Feb 15;228(2):201-3. Epub 2004 Dec 16. Review. No abstract available.

PMID:
15694206
11.

Molecular mechanisms of gap junction mutations in myelinating cells.

Sargiannidou I, Markoullis K, Kleopa KA.

Histol Histopathol. 2010 Sep;25(9):1191-206. doi: 10.14670/HH-25.1191. Review.

PMID:
20607661
12.

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Charzewska A, Wierzba J, Iżycka-Świeszewska E, Bekiesińska-Figatowska M, Jurek M, Gintowt A, Kłosowska A, Bal J, Hoffman-Zacharska D.

Clin Genet. 2016 Oct;90(4):293-304. doi: 10.1111/cge.12811. Epub 2016 Jun 17. Review.

PMID:
27234264
13.

[Pelizaeus-Merzbacher disease(PMD)/spastic paraplegia 2(SPG2)].

Eto Y.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):536-7. Review. Japanese. No abstract available.

PMID:
11032015
14.

Connexins and cell signaling in development and disease.

Wei CJ, Xu X, Lo CW.

Annu Rev Cell Dev Biol. 2004;20:811-38. Review.

PMID:
15473861
15.

Rabbit paralytic tremor phenotype--a plp1 gene mutation as a model of human Pelizaeus-Merzbacher disease.

Sypecka J, Domańska-Janik K.

Acta Neurobiol Exp (Wars). 2005;65(2):221-9. Review.

16.

Diseases of connexins expressed in myelinating glia.

Abrams CK.

Neurosci Lett. 2017 May 23. pii: S0304-3940(17)30433-0. doi: 10.1016/j.neulet.2017.05.037. [Epub ahead of print] Review.

PMID:
28545922
17.

Prenatal diagnosis of Pelizaeus-Merzbacher disease.

Garbern J, Hobson G.

Prenat Diagn. 2002 Nov;22(11):1033-5. Review. No abstract available.

PMID:
12424770
18.

Connexin: a potential novel target for protecting the central nervous system?

Xie HY, Cui Y, Deng F, Feng JC.

Neural Regen Res. 2015 Apr;10(4):659-66. doi: 10.4103/1673-5374.155444. Review.

19.

[Congenital hypomyelinating leukodystrophies--from genomic dissection to molecular diagnosis and potential therapies].

Inoue K, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H.

No To Hattatsu. 2013 Mar;45(2):122-6. Review. Japanese. No abstract available.

PMID:
23650816
20.

[Pelizaeus-Merzbacher disease].

Fukuda T, Sugie H.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):487-8. Review. Japanese. No abstract available.

PMID:
11528854

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