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Items: 1 to 20 of 140

1.

Leukoencephalopathy with vanishing white matter: a review.

Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS.

J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. Review.

2.

[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].

Pan YX, Wu Y, Niu ZP, Jiang YW.

Beijing Da Xue Xue Bao. 2009 Oct 18;41(5):608-10. Review. Chinese.

3.

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC.

Ann Neurol. 2002 Feb;51(2):264-70.

PMID:
11835386
4.

[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].

Pronk JC, Leegwater PA, van der Knaap MS.

Ned Tijdschr Geneeskd. 2002 Oct 12;146(41):1933-6. Dutch.

PMID:
12404908
5.

Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease.

Cabilly Y, Barbi M, Geva M, Marom L, Chetrit D, Ehrlich M, Elroy-Stein O.

PLoS One. 2012;7(10):e46715. doi: 10.1371/journal.pone.0046715.

6.

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.

Nat Genet. 2001 Dec;29(4):383-8.

PMID:
11704758
7.

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.

Brain Dev. 2015 Nov;37(10):960-6. doi: 10.1016/j.braindev.2015.03.003.

PMID:
25843247
8.

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H.

Brain Dev. 2015 Jun;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002.

PMID:
25457085
9.

The spectrum of mutations for the diagnosis of vanishing white matter disease.

Scali O, Di Perri C, Federico A.

Neurol Sci. 2006 Sep;27(4):271-7. Review.

PMID:
16998732
10.

Vanishing white matter disease.

van der Knaap MS, Pronk JC, Scheper GC.

Lancet Neurol. 2006 May;5(5):413-23. Review.

PMID:
16632312
11.

Genotype-phenotype correlation in vanishing white matter disease.

van der Lei HD, van Berkel CG, van Wieringen WN, Brenner C, Feigenbaum A, Mercimek-Mahmutoglu S, Philippart M, Tatli B, Wassmer E, Scheper GC, van der Knaap MS.

Neurology. 2010 Oct 26;75(17):1555-9. doi: 10.1212/WNL.0b013e3181f962ae.

PMID:
20975056
12.

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

Wu Y, Pan Y, Du L, Wang J, Gu Q, Gao Z, Li J, Leng X, Qin J, Wu X, Jiang Y.

J Hum Genet. 2009 Feb;54(2):74-7. doi: 10.1038/jhg.2008.10.

PMID:
19158808
13.

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.

Leegwater PA, Pronk JC, van der Knaap MS.

J Child Neurol. 2003 Sep;18(9):639-45. Review.

PMID:
14572143
14.

The unfolded protein response in vanishing white matter disease.

van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS.

J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5.

15.

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.

Ghezzi L, Scarpini E, Rango M, Arighi A, Bassi MT, Tenderini E, De Riz M, Jacini F, Fumagalli GG, Pietroboni AM, Galimberti D, Bresolin N.

Neurology. 2012 Nov 13;79(20):2077-8. doi: 10.1212/WNL.0b013e3182749edc.

PMID:
23115207
16.

[Leukoencephalopathy with vanishing white matter: a clinical case of adult onset].

Pato Pato A, Lorenzo González JR, Cimas Hernando I, Rodríguez-Constenla I.

Neurologia. 2009 Sep;24(7):504-5. Spanish. No abstract available.

PMID:
21469262
17.

Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease.

Bugiani M, Postma N, Polder E, Dieleman N, Scheffer PG, Sim FJ, van der Knaap MS, Boor I.

Brain. 2013 Jan;136(Pt 1):209-22. doi: 10.1093/brain/aws320.

20.

Impaired eukaryotic translation initiation factor 2B activity specifically in oligodendrocytes reproduces the pathology of vanishing white matter disease in mice.

Lin Y, Pang X, Huang G, Jamison S, Fang J, Harding HP, Ron D, Lin W.

J Neurosci. 2014 Sep 3;34(36):12182-91. doi: 10.1523/JNEUROSCI.1373-14.2014.

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