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Items: 1 to 20 of 118

1.

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

Huyghe A, Horzinski L, Hénaut A, Gaillard M, Bertini E, Schiffmann R, Rodriguez D, Dantal Y, Boespflug-Tanguy O, Fogli A.

PLoS One. 2012;7(6):e38264. doi: 10.1371/journal.pone.0038264. Epub 2012 Jun 21.

2.

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
3.

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.

4.

CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.

Fogli A, Merle C, Roussel V, Schiffmann R, Ughetto S, Theisen M, Boespflug-Tanguy O.

PLoS One. 2012;7(8):e42688. doi: 10.1371/journal.pone.0042688. Epub 2012 Aug 29.

5.

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.

Kantor L, Harding HP, Ron D, Schiffmann R, Kaneski CR, Kimball SR, Elroy-Stein O.

Hum Genet. 2005 Oct;118(1):99-106. Epub 2005 Oct 28.

PMID:
16041584
6.

[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
7.

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
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.

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.

Horzinski L, Kantor L, Huyghe A, Schiffmann R, Elroy-Stein O, Boespflug-Tanguy O, Fogli A.

BMC Neurol. 2010 Oct 19;10:94. doi: 10.1186/1471-2377-10-94.

10.

A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression.

Marom L, Ulitsky I, Cabilly Y, Shamir R, Elroy-Stein O.

PLoS One. 2011;6(10):e26992. doi: 10.1371/journal.pone.0026992. Epub 2011 Oct 31.

11.

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
12.

eIF2B, a mediator of general and gene-specific translational control.

Pavitt GD.

Biochem Soc Trans. 2005 Dec;33(Pt 6):1487-92. Review.

PMID:
16246152
14.

The latest on leukodystrophies.

Schiffmann R, van der Knaap MS.

Curr Opin Neurol. 2004 Apr;17(2):187-92. Review.

PMID:
15021247
15.

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
16.

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
17.

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.

18.

Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics.

Noetzel MJ.

Neurology. 2004 Mar 23;62(6):847-8. Review. No abstract available.

PMID:
15037679
19.

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
20.

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

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