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Items: 1 to 20 of 108

1.

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A.

Mol Genet Metab. 2014 Mar;111(3):393-8. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16.

2.

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
3.

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
4.

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
5.

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E.

Brain. 2015 Sep;138(Pt 9):2521-36. doi: 10.1093/brain/awv204. Epub 2015 Jul 15.

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.

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
8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS.

Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18.

15.

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
16.

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.

17.

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.

18.

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
19.
20.

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

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