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Results: 1 to 20 of 162

1.

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
[PubMed - indexed for MEDLINE]
2.

[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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

[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.

PMID:
19829687
[PubMed - indexed for MEDLINE]
Free Article
5.

The large spectrum of eIF2B-related diseases.

Fogli A, Boespflug-Tanguy O.

Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. Review.

PMID:
16246171
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Vanishing white matter disease: a review with focus on its genetics.

Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS.

Ment Retard Dev Disabil Res Rev. 2006;12(2):123-8. Review.

PMID:
16807905
[PubMed - indexed for MEDLINE]
8.

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O.

Neurology. 2004 May 11;62(9):1509-17.

PMID:
15136673
[PubMed - indexed for MEDLINE]
9.

eIF2B-related disorders: antenatal onset and involvement of multiple organs.

van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC.

Am J Hum Genet. 2003 Nov;73(5):1199-207. Epub 2003 Oct 17.

PMID:
14566705
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

A case of ovarioleukodystrophy without eIF2B mutations.

Gaudiano C, Di Perri C, Scali O, Rufa A, Battisti C, De Stefano N, Federico A.

J Neurol Sci. 2008 May 15;268(1-2):183-6. Epub 2007 Dec 3.

PMID:
18061208
[PubMed - indexed for MEDLINE]
12.

Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

Li W, Wang X, Van Der Knaap MS, Proud CG.

Mol Cell Biol. 2004 Apr;24(8):3295-306.

PMID:
15060152
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. Epub 2009 Jan 16.

PMID:
19158808
[PubMed - indexed for MEDLINE]
14.

Vanishing white matter disease.

van der Knaap MS, Pronk JC, Scheper GC.

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

PMID:
16632312
[PubMed - indexed for MEDLINE]
15.

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients.

van Kollenburg B, Thomas AA, Vermeulen G, Bertrand GA, van Berkel CG, Pronk JC, Proud CG, van der Knaap MS, Scheper GC.

Neurobiol Dis. 2006 Mar;21(3):496-504. Epub 2005 Sep 26.

PMID:
16185887
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
20838246
[PubMed - indexed for MEDLINE]
17.

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Damon-Perriere N, Menegon P, Olivier A, Boespflug-Tanguy O, Niel F, Creveaux I, Dousset V, Brochet B, Goizet C.

Clin Neurol Neurosurg. 2008 Dec;110(10):1068-71. doi: 10.1016/j.clineuro.2008.08.003. Epub 2008 Oct 8.

PMID:
18845387
[PubMed - indexed for MEDLINE]
18.

The ovarioleukodystrophy.

Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP.

Clin Neurol Neurosurg. 2008 Dec;110(10):1035-7. doi: 10.1016/j.clineuro.2008.06.002. Epub 2008 Aug 3.

PMID:
18678442
[PubMed - indexed for MEDLINE]
19.

Vanishing white matter disease in a child presenting with ataxia.

Wilson CJ, Pronk JC, Van der Knaap MS.

J Paediatr Child Health. 2005 Jan-Feb;41(1-2):65-7.

PMID:
15670229
[PubMed - indexed for MEDLINE]
20.

Dominant form of vanishing white matter-like leukoencephalopathy.

Labauge P, Fogli A, Castelnovo G, Le Bayon A, Horzinski L, Nicoli F, Cozzone P, Pagès M, Briere C, Marty-Double C, Delhaume O, Gelot A, Boespflug-Tanguy O, Rodriguez D.

Ann Neurol. 2005 Oct;58(4):634-9.

PMID:
16047349
[PubMed - indexed for MEDLINE]

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