BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

399 related articles for article (PubMed ID: 24938145)

  • 1. Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.
    Klingelhoefer L; Misbahuddin A; Jawad T; Mellers J; Jarosz J; Weeks R; Ray Chaudhuri K
    Pediatr Neurol; 2014 Jul; 51(1):157-64. PubMed ID: 24938145
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
    Wei C; Qin Q; Chen F; Zhou A; Wang F; Zuo X; Chen R; Lyu J; Jia J
    BMC Neurol; 2019 Aug; 19(1):203. PubMed ID: 31438897
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
    Labauge P; Horzinski L; Ayrignac X; Blanc P; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Sèze J; Fogli A; Boespflug-Tanguy O
    Brain; 2009 Aug; 132(Pt 8):2161-9. PubMed ID: 19625339
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
    Alsalem A; Shaheen R; Alkuraya FS
    Gene; 2012 Apr; 496(2):141-3. PubMed ID: 22285377
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Leukoencephalopathy with vanishing white matter: a review.
    Bugiani M; Boor I; Powers JM; Scheper GC; van der Knaap MS
    J Neuropathol Exp Neurol; 2010 Oct; 69(10):987-96. PubMed ID: 20838246
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Leukoencephalopathy with vanishing white matter: a clinical case of adult onset].
    Pato Pato A; Lorenzo González JR; Cimas Hernando I; Rodríguez-Constenla I
    Neurologia; 2009 Sep; 24(7):504-5. PubMed ID: 21469262
    [No Abstract]   [Full Text] [Related]  

  • 9. Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
    Jansen AC; Andermann E; Niel F; Creveaux I; Boespflug-Tanguy O; Andermann F
    Epilepsia; 2008 May; 49(5):910-3. PubMed ID: 18266750
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy].
    Esmer C; Blanco Hernández G; Saavedra Alanís V; Reyes Vaca JG; Bravo Oro A
    Bol Med Hosp Infant Mex; 2017; 74(5):364-369. PubMed ID: 29382480
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. [Advances in functional study of EIF2B mutations in leukoencephalopathy with vanishing white matter].
    Leng XR; Wu Y; Jiang YW
    Sheng Li Ke Xue Jin Zhan; 2010 Apr; 41(2):125-8. PubMed ID: 21416999
    [No Abstract]   [Full Text] [Related]  

  • 14. Vanishing white matter disease in French-Canadian patients from Quebec.
    Robinson MÈ; Rossignol E; Brais B; Rouleau G; Arbour JF; Bernard G
    Pediatr Neurol; 2014 Aug; 51(2):225-32. PubMed ID: 25079571
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
    Mierzewska H; van der Knaap MS; Scheper GC; Jurkiewicz E; Schmidt-Sidor B; Szymańska K
    Folia Neuropathol; 2006; 44(2):144-8. PubMed ID: 16823698
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.
    Bektaş G; Yeşil G; Özkan MU; Yıldız EP; Uzunhan TA; Çalışkan M
    Clin Neurol Neurosurg; 2018 Aug; 171():190-193. PubMed ID: 29933199
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.