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Items: 1 to 20 of 189

1.

Pelizaeus-Merzbacher disease as a chromosomal disorder.

Yamamoto T, Shimojima K.

Congenit Anom (Kyoto). 2013 Mar;53(1):3-8. doi: 10.1111/cga.12005. Review.

PMID:
23480352
2.

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300.

3.

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
4.

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T.

Eur J Med Genet. 2012 Jun;55(6-7):400-3. doi: 10.1016/j.ejmg.2012.02.013. Epub 2012 Mar 21.

PMID:
22490426
5.

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.

Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.

Chin Med J (Engl). 2008 Sep 5;121(17):1638-42.

PMID:
19024090
6.

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.

J Hum Genet. 2012 Sep;57(9):580-6. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14.

PMID:
22695888
7.

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.

Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J.

Brain Dev. 2013 Oct;35(9):877-80. doi: 10.1016/j.braindev.2012.10.018. Epub 2012 Dec 14.

PMID:
23245814
8.

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.

Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.

Neurol Neurochir Pol. 2010 Sep-Oct;44(5):511-5.

PMID:
21082496
9.

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M.

Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):494-8. doi: 10.1002/bdra.23015. Epub 2012 Apr 18.

PMID:
22511562
10.

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.

Brain Dev. 2010 Mar;32(3):171-9. doi: 10.1016/j.braindev.2009.02.011. Epub 2009 Mar 27.

PMID:
19328639
11.

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

Fonseca AC, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM.

Clin Genet. 2013 Feb;83(2):169-74. doi: 10.1111/j.1399-0004.2012.01854.x. Epub 2012 Mar 16.

PMID:
22320281
12.

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O.

BMC Med Genet. 2015 Sep 2;16:77. doi: 10.1186/s12881-015-0226-6.

13.

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2006 Jul 15;15(14):2250-65. Epub 2006 Jun 14.

PMID:
16774974
14.

PLP1 gene analysis in 88 patients with leukodystrophy.

Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J.

Clin Genet. 2013 Dec;84(6):566-71. doi: 10.1111/cge.12103. Epub 2013 Mar 11.

PMID:
23347225
15.

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ.

Brain. 2005 Apr;128(Pt 4):743-51. Epub 2005 Feb 2.

PMID:
15689360
16.

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

Lee ES, Moon HK, Park YH, Garbern J, Hobson GM.

J Neurol Sci. 2004 Sep 15;224(1-2):83-7.

PMID:
15450775
17.
18.

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
19.

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.

Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG.

Prenat Diagn. 2001 Dec;21(13):1133-6.

PMID:
11787038
20.

Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.

Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y.

Brain Dev. 2015 Sep;37(8):797-802. doi: 10.1016/j.braindev.2014.11.007. Epub 2014 Dec 6.

PMID:
25491635

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