These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 28041799)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. [Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
    Carra-Dalliere C; Horzinski L; Ayrignac X; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Seze J; Sedel F; Guennoc AM; Sartori E; Laplaud D; Antoine JC; Fogli A; Boespflug-Tanguy O; Labauge P
    Rev Neurol (Paris); 2011 Nov; 167(11):802-11. PubMed ID: 21676421
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].
    Wu Y; Jiang YW; Qin J; Xiao JX; Wang JM; Yang YL; Zhang YH; Chang XZ; Lin Q; Wu XR
    Zhonghua Er Ke Za Zhi; 2007 Feb; 45(2):115-20. PubMed ID: 17456339
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Human-induced pluripotent stem cell-derived cerebral organoid of leukoencephalopathy with vanishing white matter.
    Deng J; Zhang J; Gao K; Zhou L; Jiang Y; Wang J; Wu Y
    CNS Neurosci Ther; 2023 Apr; 29(4):1049-1066. PubMed ID: 36650674
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
    Fogli A; Dionisi-Vici C; Deodato F; Bartuli A; Boespflug-Tanguy O; Bertini E
    Neurology; 2002 Dec; 59(12):1966-8. PubMed ID: 12499492
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
    Leegwater PA; Vermeulen G; Könst AA; Naidu S; Mulders J; Visser A; Kersbergen P; Mobach D; Fonds D; van Berkel CG; Lemmers RJ; Frants RR; Oudejans CB; Schutgens RB; Pronk JC; van der Knaap MS
    Nat Genet; 2001 Dec; 29(4):383-8. PubMed ID: 11704758
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and
    Trevisan L; Grazzini M; Cianflone A; Accogli A; Finocchi C; Capello E; Saitta L; Grandis M; Roccatagliata L; Mandich P
    Neurocase; 2021 Dec; 27(6):452-456. PubMed ID: 34751098
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Adult Vanishing White Matter Disease with a Novel EIF2B4 Mutation.
    Su T; Yuan H; Gao W; Li H; Yuan M
    J Coll Physicians Surg Pak; 2022 Dec; 32(12):SS181-SS183. PubMed ID: 36597332
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.
    Ferreira MC; Dorboz I; Boespflug-Tanguy O
    Clin Biochem; 2015 Dec; 48(18):1317-23. PubMed ID: 26162493
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.
    Damon-Perriere N; Menegon P; Olivier A; Boespflug-Tanguy O; Niel F; Creveaux I; Dousset V; Brochet B; Goizet C
    Clin Neurol Neurosurg; 2008 Dec; 110(10):1068-71. PubMed ID: 18845387
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Spasticity and progressive ataxia due to vanishing white matter].
    Paez-Granda D; Jimenez-Sanchez A; Fernandez-Hernandez C; Serrano-Garcia C
    Rev Neurol; 2017 Dec; 65(12):563-564. PubMed ID: 29235619
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
    Labauge P; Fogli A; Niel F; Rodriguez D; Boespflug-Tanguy O
    Rev Neurol (Paris); 2007 Sep; 163(8-9):793-9. PubMed ID: 17878805
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Secretomics Alterations and Astrocyte Dysfunction in Human iPSC of Leukoencephalopathy with Vanishing White Matter.
    Deng J; Zhang J; Gao K; Yan W; Zhou L; Jiang Y; Wang J; Wu Y
    Neurochem Res; 2022 Dec; 47(12):3747-3760. PubMed ID: 36198922
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Vanishing white matter disease with mutations in EIF2B5 gene.
    Sharma S; Ajij M; Singh V; Aneja S
    Indian J Pediatr; 2015 Jan; 82(1):93-5. PubMed ID: 25230711
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.