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3. Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. Passemard S; Gelot A; Fogli A; N'Guyen S; Barnerias C; Niel F; Doummar D; Arbues AS; Mignot C; de Villemeur TB; Ponsot G; Boespflug-Tanguy O; Rodriguez D Neurology; 2007 Jul; 69(4):400-2. PubMed ID: 17646634 [No Abstract] [Full Text] [Related]
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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. PubMed ID: 16998732 [TBL] [Abstract][Full Text] [Related]
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11. 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. PubMed ID: 15776425 [TBL] [Abstract][Full Text] [Related]
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14. eIF2B, a mediator of general and gene-specific translational control. Pavitt GD Biochem Soc Trans; 2005 Dec; 33(Pt 6):1487-92. PubMed ID: 16246152 [TBL] [Abstract][Full Text] [Related]
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20. 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. PubMed ID: 18504679 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]