187 related articles for article (PubMed ID: 19158808)
1. Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y; Pan Y; Du L; Wang J; Gu Q; Gao Z; Li J; Leng X; Qin J; Wu X; Jiang Y
J Hum Genet; 2009 Feb; 54(2):74-7. PubMed ID: 19158808
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Zhang H; Dai L; Chen N; Zang L; Leng X; Du L; Wang J; Jiang Y; Zhang F; Wu X; Wu Y
PLoS One; 2015; 10(3):e0118001. PubMed ID: 25761052
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.
Khorrami M; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Iravani O; Yazdani V; Riahinezhad M; Kheirollahi M
J Mol Neurosci; 2021 Nov; 71(11):2405-2414. PubMed ID: 33687620
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].
Pan YX; Wu Y; Niu ZP; Jiang YW
Beijing Da Xue Xue Bao Yi Xue Ban; 2009 Oct; 41(5):608-10. PubMed ID: 19829687
[TBL] [Abstract][Full Text] [Related]
8. Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Slynko I; Nguyen S; Hamilton EMC; Wisse LE; de Esch IJP; de Graaf C; Bruning JB; Proud CG; Abbink TEM; van der Knaap MS
Mol Genet Genomic Med; 2021 Mar; 9(3):e1593. PubMed ID: 33432707
[TBL] [Abstract][Full Text] [Related]
9. Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
Leng X; Wu Y; Wang X; Pan Y; Wang J; Li J; Du L; Dai L; Wu X; Proud CG; Jiang Y
J Hum Genet; 2011 Apr; 56(4):300-5. PubMed ID: 21307862
[TBL] [Abstract][Full Text] [Related]
10. Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Lee YR; Kim SH; Ben-Mahmoud A; Kim OH; Choi TI; Lee KH; Ku B; Eum J; Kee Y; Lee S; Cha J; Won D; Lee ST; Choi JR; Lee JS; Kim HD; Kim HG; Bonkowsky JL; Kang HC; Kim CH
Hum Mol Genet; 2021 Apr; 30(5):331-342. PubMed ID: 33517449
[TBL] [Abstract][Full Text] [Related]
11. Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Wortham NC; Proud CG
BMC Med Genet; 2015 Aug; 16():64. PubMed ID: 26285592
[TBL] [Abstract][Full Text] [Related]
12. A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Ghezzi L; Scarpini E; Rango M; Arighi A; Bassi MT; Tenderini E; De Riz M; Jacini F; Fumagalli GG; Pietroboni AM; Galimberti D; Bresolin N
Neurology; 2012 Nov; 79(20):2077-8. PubMed ID: 23115207
[TBL] [Abstract][Full Text] [Related]
13. A novel missense variant in
Nourmohammadi P; Asadollahi M; Karamzade A; Eshaghkhani Y; Babaei M; Golchehre Z; Taheri SR; Hasani S; Taghizadeh M; Keramatipour M
J Genet; 2023; 102():. PubMed ID: 37674283
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
La Piana R; Vanderver A; van der Knaap M; Roux L; Tampieri D; Brais B; Bernard G
Arch Neurol; 2012 Jun; 69(6):765-68. PubMed ID: 22312164
[TBL] [Abstract][Full Text] [Related]
17. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Liu R; van der Lei HD; Wang X; Wortham NC; Tang H; van Berkel CG; Mufunde TA; Huang W; van der Knaap MS; Scheper GC; Proud CG
Hum Mutat; 2011 Sep; 32(9):1036-45. PubMed ID: 21560189
[TBL] [Abstract][Full Text] [Related]
18. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T; Wang X; Liu R; Wortham NC; Onuki Y; Kubota A; Hida A; Kowa H; Fukuda Y; Ishiura H; Mitsui J; Takahashi Y; Aoki S; Takizawa S; Shimizu J; Goto J; Proud CG; Tsuji S
Neurogenetics; 2011 Aug; 12(3):259-61. PubMed ID: 21484434
[No Abstract] [Full Text] [Related]
19. 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. PubMed ID: 11835386
[TBL] [Abstract][Full Text] [Related]
20. Ovarioleukodystrophy due to EIF2B5 mutations.
Ibitoye RT; Renowden SA; Faulkner HJ; Scolding NJ; Rice CM
Pract Neurol; 2016 Dec; 16(6):496-499. PubMed ID: 27651498
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
