196 related articles for article (PubMed ID: 33687620)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.
Filareto I; Cinelli G; Scalabrini I; Caramaschi E; Bergonzini P; Spezia E; Todeschini A; Iughetti L
Ital J Pediatr; 2022 Jul; 48(1):128. PubMed ID: 35897042
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.
Xu L; Zhong M; Yang Y; Wang M; An N; Xu X; Zhu Y; Li Z; Chen H; Zhao R; Zheng X
Neurol Sci; 2022 Apr; 43(4):2659-2667. PubMed ID: 34755279
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease.
Kim D; Lee YR; Choi TI; Kim SH; Kang HC; Kim CH; Lee S
Int J Mol Sci; 2021 Mar; 22(5):. PubMed ID: 33800130
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings.
Song H; Haeri S; Vogel H; van der Knaap M; Van Haren K
J Child Neurol; 2017 Sep; 32(10):867-870. PubMed ID: 28597716
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease].
Kashiwagi K; Ito T; Yokoyama S
Brain Nerve; 2017 Jan; 69(1):45-50. PubMed ID: 28126977
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
