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25. Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter. Matsui M; Mizutani K; Ohtake H; Miki Y; Ishizu K; Fukuyama H; Shimohata T; Onodera O; Nishizawa M; Takayama Y; Shibasaki H Eur Neurol; 2007; 57(1):57-8. PubMed ID: 17119336 [No Abstract] [Full Text] [Related]
26. The latest on leukodystrophies. Schiffmann R; van der Knaap MS Curr Opin Neurol; 2004 Apr; 17(2):187-92. PubMed ID: 15021247 [TBL] [Abstract][Full Text] [Related]
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29. 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; 10():94. PubMed ID: 20958979 [TBL] [Abstract][Full Text] [Related]
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31. Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor. Peter L; Niel F; Catenoix H; Jung J; Demarquay G; Petiot P; Rudigoz RC; Boespflug-Tanguy O; Ryvlin P; Mauguière F Eur J Neurol; 2008 Jan; 15(1):94-7. PubMed ID: 18005052 [TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 22952606 [TBL] [Abstract][Full Text] [Related]
33. 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. PubMed ID: 22737209 [TBL] [Abstract][Full Text] [Related]
34. [Leukoencephalopathy with vanishing white matter: A case report]. San Antonio-Arce V; Martín Fernández-Mayoralas D; Muñoz-Jareño N; Fresneda-Machado C; Sáiz-Ayala A; Campos-Castelló J Rev Neurol; 2006 Nov 1-15; 43(9):535-40. PubMed ID: 17072809 [TBL] [Abstract][Full Text] [Related]
35. [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; 146(41):1933-6. PubMed ID: 12404908 [TBL] [Abstract][Full Text] [Related]
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39. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Schiffmann R; Elroy-Stein O Mol Genet Metab; 2006 May; 88(1):7-15. PubMed ID: 16378743 [TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 25758335 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]