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Items: 1 to 20 of 162

1.

Identification of ten novel mutations in patients with eIF2B-related disorders.

Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschütter A, Gärtner J.

Hum Mutat. 2005 Apr;25(4):411.

PMID:
15776425
2.

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
3.

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
4.

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Sèze J, Fogli A, Boespflug-Tanguy O.

Brain. 2009 Aug;132(Pt 8):2161-9. doi: 10.1093/brain/awp171.

PMID:
19625339
5.

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
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.

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

Carra-Dalliere C, Horzinski L, Ayrignac X, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Sedel F, Guennoc AM, Sartori E, Laplaud D, Antoine JC, Fogli A, Boespflug-Tanguy O, Labauge P.

Rev Neurol (Paris). 2011 Nov;167(11):802-11. doi: 10.1016/j.neurol.2011.03.008. Epub 2011 Jun 14. French.

PMID:
21676421
8.

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O.

Eur J Hum Genet. 2004 Jul;12(7):561-6.

9.

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
10.

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
11.

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.

Horzinski L, Huyghe A, Cardoso MC, Gonthier C, Ouchchane L, Schiffmann R, Blanc P, Boespflug-Tanguy O, Fogli A.

PLoS One. 2009 Dec 15;4(12):e8318. doi: 10.1371/journal.pone.0008318.

12.

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
13.

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R.

Ann Neurol. 2002 Oct;52(4):506-10.

PMID:
12325082
14.

Vanishing white matter disease associated with progressive macrocephaly.

Pineda M, R-Palmero A, Baquero M, O'Callaghan M, Aracil A, van der Knaap M, Scheper GC.

Neuropediatrics. 2008 Feb;39(1):29-32. doi: 10.1055/s-2008-1076738.

PMID:
18504679
15.

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
16.

[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
17.

Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.

Horzinski L, Gonthier C, Rodriguez D, Scherer C, Boespflug-Tanguy O, Fogli A.

Ann Hum Genet. 2008 May;72(Pt 3):410-5. doi: 10.1111/j.1469-1809.2007.00427.x. Epub 2008 Feb 19.

18.

Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

Woody AL, Hsieh DT, McIver HK, Thomas LP, Rohena L.

Am J Med Genet A. 2015 Apr;167A(4):826-30. doi: 10.1002/ajmg.a.36961. Epub 2015 Mar 9.

PMID:
25758335
19.

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

Jansen AC, Andermann E, Niel F, Creveaux I, Boespflug-Tanguy O, Andermann F.

Epilepsia. 2008 May;49(5):910-3. doi: 10.1111/j.1528-1167.2008.01542.x. Epub 2008 Feb 7.

20.

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Vanderver A.

J Child Neurol. 2008 Feb;23(2):205-15. doi: 10.1177/0883073807308705.

PMID:
18263758

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