BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 16864840)

  • 21. 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]  

  • 22. Leukoencephalopathy with vanishing white matter:: an adult onset case.
    Biancheri R; Rossi A; Di Rocco M; Filocamo M; Pronk JC; van der Knaap MS; Tortori-Donati P
    Neurology; 2003 Dec; 61(12):1818-9. PubMed ID: 14694060
    [No Abstract]   [Full Text] [Related]  

  • 23. [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]  

  • 24. Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
    Passemard S; Gelot A; Fogli A; N'Guyen S; Barnerias C; Niel F; Doummar D; Arbues AS; Mignot C; de Villemeur TB; Ponsot G; Boespflug-Tanguy O; Rodriguez D
    Neurology; 2007 Jul; 69(4):400-2. PubMed ID: 17646634
    [No Abstract]   [Full Text] [Related]  

  • 25. Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy.
    Mascalchi M; De Grandis D; Ginestroni A; Pratesi A; Della Nave R; Scheper GC; van der Knaap MS
    Neurology; 2006 Aug; 67(3):537-8. PubMed ID: 16894129
    [No Abstract]   [Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations.
    Lee HN; Koh SH; Lee KY; Ki CS; Lee YJ
    Eur J Neurol; 2009 Mar; 16(3):e42-3. PubMed ID: 19170749
    [No Abstract]   [Full Text] [Related]  

  • 30. Vanishing white matter disease associated with progressive macrocephaly.
    Pineda M; R-Palmero A; Baquero M; O'Callaghan M; Aracil A; van der Knaap M; Scheper GC
    Neuropediatrics; 2008 Feb; 39(1):29-32. PubMed ID: 18504679
    [TBL] [Abstract][Full Text] [Related]  

  • 31. SOX10 mutation with peripheral amyelination and developmental disturbance of axons.
    Parthey K; Kornhuber M; Kunze C; Wand D; Nolte KW; Nikolin S; Weis J; Schröder JM
    Muscle Nerve; 2012 Feb; 45(2):284-90. PubMed ID: 22246888
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Polymicrogyria and motor neuropathy in Micro syndrome.
    Nassogne MC; Henrot B; Saint-Martin C; Kadhim H; Dobyns WB; Sébire G
    Neuropediatrics; 2000 Aug; 31(4):218-21. PubMed ID: 11071150
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Non-eIF2B-related cystic leukoencephalopathy of unknown origin.
    van der Knaap MS; Scheper GC
    Ann Neurol; 2006 Apr; 59(4):724. PubMed ID: 16566013
    [No Abstract]   [Full Text] [Related]  

  • 35. 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]  

  • 36. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.
    Dietrich J; Lacagnina M; Gass D; Richfield E; Mayer-Pröschel M; Noble M; Torres C; Pröschel C
    Nat Med; 2005 Mar; 11(3):277-83. PubMed ID: 15723074
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Vanishing white matter disease: a review with focus on its genetics.
    Pronk JC; van Kollenburg B; Scheper GC; van der Knaap MS
    Ment Retard Dev Disabil Res Rev; 2006; 12(2):123-8. PubMed ID: 16807905
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathies.
    Kaye EM; Moser H
    Neurology; 2004 May; 62(9):1464-5. PubMed ID: 15136665
    [No Abstract]   [Full Text] [Related]  

  • 39. No evidence for association between the EIF2B5 gene and multiple sclerosis in French families.
    Fogli A; Barbier C; Cournu-Rebeix I; Babron MC; Clerget-Darpoux F; Fontaine B; Boespflug-Tanguy O
    Mult Scler; 2008 May; 14(4):573. PubMed ID: 18562513
    [No Abstract]   [Full Text] [Related]  

  • 40. Phenotypic variability in giant axonal neuropathy.
    Tazir M; Nouioua S; Magy L; Huehne K; Assami S; Urtizberea A; Grid D; Hamadouche T; Rautenstrauss B; Vallat JM
    Neuromuscul Disord; 2009 Apr; 19(4):270-4. PubMed ID: 19231187
    [TBL] [Abstract][Full Text] [Related]  

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