BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 25758335)

  • 21. The latest on leukodystrophies.
    Schiffmann R; van der Knaap MS
    Curr Opin Neurol; 2004 Apr; 17(2):187-92. PubMed ID: 15021247
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.
    Schiffmann R; Elroy-Stein O
    Mol Genet Metab; 2006 May; 88(1):7-15. PubMed ID: 16378743
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
    Fogli A; Wong K; Eymard-Pierre E; Wenger J; Bouffard JP; Goldin E; Black DN; Boespflug-Tanguy O; Schiffmann R
    Ann Neurol; 2002 Oct; 52(4):506-10. PubMed ID: 12325082
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. eIF2B, a mediator of general and gene-specific translational control.
    Pavitt GD
    Biochem Soc Trans; 2005 Dec; 33(Pt 6):1487-92. PubMed ID: 16246152
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. [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]  

  • 35. 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]  

  • 36. 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]  

  • 37. 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]  

  • 38. The ovarioleukodystrophy.
    Mathis S; Scheper GC; Baumann N; Petit E; Gil R; van der Knaap MS; Neau JP
    Clin Neurol Neurosurg; 2008 Dec; 110(10):1035-7. PubMed ID: 18678442
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Case Report: A Novel
    Wongkittichote P; Mar SS; McKinstry RC; Nguyen H
    Front Genet; 2022; 13():893057. PubMed ID: 35783294
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 12.