486 related articles for article (PubMed ID: 11704758)
21. 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. PubMed ID: 25843247
[TBL] [Abstract][Full Text] [Related]
22. 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. PubMed ID: 16047349
[TBL] [Abstract][Full Text] [Related]
23. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA; Pronk JC; van der Knaap MS
J Child Neurol; 2003 Sep; 18(9):639-45. PubMed ID: 14572143
[TBL] [Abstract][Full Text] [Related]
24. Genotype-phenotype correlation in vanishing white matter disease.
van der Lei HD; van Berkel CG; van Wieringen WN; Brenner C; Feigenbaum A; Mercimek-Mahmutoglu S; Philippart M; Tatli B; Wassmer E; Scheper GC; van der Knaap MS
Neurology; 2010 Oct; 75(17):1555-9. PubMed ID: 20975056
[TBL] [Abstract][Full Text] [Related]
25. A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter.
Geva M; Cabilly Y; Assaf Y; Mindroul N; Marom L; Raini G; Pinchasi D; Elroy-Stein O
Brain; 2010 Aug; 133(Pt 8):2448-61. PubMed ID: 20826436
[TBL] [Abstract][Full Text] [Related]
26. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
Li W; Wang X; Van Der Knaap MS; Proud CG
Mol Cell Biol; 2004 Apr; 24(8):3295-306. PubMed ID: 15060152
[TBL] [Abstract][Full Text] [Related]
27. 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. PubMed ID: 15054402
[TBL] [Abstract][Full Text] [Related]
28. Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
Terumitsu-Tsujita M; Kitaura H; Miura I; Kiyama Y; Goto F; Muraki Y; Ominato S; Hara N; Simankova A; Bizen N; Kashiwagi K; Ito T; Toyoshima Y; Kakita A; Manabe T; Wakana S; Takebayashi H; Igarashi H
J Neurochem; 2020 Jul; 154(1):25-40. PubMed ID: 31587290
[TBL] [Abstract][Full Text] [Related]
29. An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
Shimada S; Miya K; Oda N; Watanabe Y; Kumada T; Sugawara M; Shimojima K; Yamamoto T
Am J Med Genet A; 2012 Jul; 158A(7):1771-7. PubMed ID: 22678813
[TBL] [Abstract][Full Text] [Related]
30. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.
Dietrich J; Lacagnina M; Gass D; Richfield E; Mayer-Pröschel M; Noble M; Torres C; Pröschel C
Nat Med; 2005 Mar; 11(3):277-83. PubMed ID: 15723074
[TBL] [Abstract][Full Text] [Related]
31. A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Takano K; Tsuyusaki Y; Sato M; Takagi M; Anzai R; Okuda M; Iai M; Yamashita S; Okabe T; Aida N; Tsurusaki Y; Saitsu H; Matsumoto N; Osaka H
Brain Dev; 2015 Jun; 37(6):638-42. PubMed ID: 25457085
[TBL] [Abstract][Full Text] [Related]
32. Arg113His mutation of vanishing white matter is not present in multiple sclerosis.
Lucas M; Suarez R; Marcos A; Solano F; Venegas A; Garcia-Sanchez MI; Ortiz L; Izquierdo G
Mult Scler; 2007 Apr; 13(3):424-7. PubMed ID: 17439913
[TBL] [Abstract][Full Text] [Related]
33. 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. PubMed ID: 18294360
[TBL] [Abstract][Full Text] [Related]
34. Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis.
Zahoor I; Hamid Z; Asimi R; Haq E
Indian J Biochem Biophys; 2014 Apr; 51(2):115-20. PubMed ID: 24980014
[TBL] [Abstract][Full Text] [Related]
35. Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.
Raini G; Sharet R; Herrero M; Atzmon A; Shenoy A; Geiger T; Elroy-Stein O
J Neurochem; 2017 Jun; 141(5):694-707. PubMed ID: 28306143
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease.
Cabilly Y; Barbi M; Geva M; Marom L; Chetrit D; Ehrlich M; Elroy-Stein O
PLoS One; 2012; 7(10):e46715. PubMed ID: 23056417
[TBL] [Abstract][Full Text] [Related]
38. Multiple Sclerosis and EIF2B5: A Paradox or a Missing Link.
Zahoor I; Haq E; Asimi R
Adv Exp Med Biol; 2017; 958():57-64. PubMed ID: 28093708
[TBL] [Abstract][Full Text] [Related]
39. Vanishing white matter: deregulated integrated stress response as therapy target.
Abbink TEM; Wisse LE; Jaku E; Thiecke MJ; Voltolini-González D; Fritsen H; Bobeldijk S; Ter Braak TJ; Polder E; Postma NL; Bugiani M; Struijs EA; Verheijen M; Straat N; van der Sluis S; Thomas AAM; Molenaar D; van der Knaap MS
Ann Clin Transl Neurol; 2019 Aug; 6(8):1407-1422. PubMed ID: 31402619
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]