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Items: 1 to 20 of 84

1.

Ovarian failure related to eukaryotic initiation factor 2B mutations.

Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O.

Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21.

2.

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
3.

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K.

Folia Neuropathol. 2006;44(2):144-8.

4.

[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
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
6.

Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.

Fogli A, Gauthier-Barichard F, Schiffmann R, Vanderhoof VH, Bakalov VK, Nelson LM, Boespflug-Tanguy O.

BMC Womens Health. 2004 Oct 26;4(1):8.

7.

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
8.

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.

9.
11.

The latest on leukodystrophies.

Schiffmann R, van der Knaap MS.

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

PMID:
15021247
12.

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. Epub 2015 Apr 3.

PMID:
25843247
13.

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
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.

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
16.

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
17.

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
18.

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
19.

[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].

Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O.

Rev Neurol (Paris). 2007 Sep;163(8-9):793-9. Review. French.

PMID:
17878805
20.

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

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