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Journal Abstract Search

324 related items for PubMed ID: 16047349

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. The large spectrum of eIF2B-related diseases.
    Fogli A, Boespflug-Tanguy O.
    Biochem Soc Trans; 2006 Feb; 34(Pt 1):22-9. PubMed ID: 16246171
    [Abstract] [Full Text] [Related]

  • 3. The spectrum of mutations for the diagnosis of vanishing white matter disease.
    Scali O, Di Perri C, Federico A.
    Neurol Sci; 2006 Sep; 27(4):271-7. PubMed ID: 16998732
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  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. The dominant form of vanishing white matter-like leukoencephalopathy represents autosomal dominant leukodystrophy.
    Ptácek LJ, Fu YH, Koeppen A.
    Ann Neurol; 2006 Feb; 59(2):434. PubMed ID: 16437562
    [No Abstract] [Full Text] [Related]

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  • 8. [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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. [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
    [Abstract] [Full Text] [Related]

  • 11. Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis.
    Denier C, Orgibet A, Roffi F, Jouvent E, Buhl C, Niel F, Boespflug-Tanguy O, Said G, Ducreux D.
    Neurology; 2007 May 01; 68(18):1538-9. PubMed ID: 17470759
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  • 13. 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 01; 39(1):29-32. PubMed ID: 18504679
    [Abstract] [Full Text] [Related]

  • 14. Identification of ten novel mutations in patients with eIF2B-related disorders.
    Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschütter A, Gärtner J.
    Hum Mutat; 2005 Apr 01; 25(4):411. PubMed ID: 15776425
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  • 15. 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 Apr 01; 44(2):144-8. PubMed ID: 16823698
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 75(17):1555-9. PubMed ID: 20975056
    [Abstract] [Full Text] [Related]

  • 17. [Leukoencephalopathy with vanishing white matter: A case report].
    San Antonio-Arce V, Martín Fernández-Mayoralas D, Muñoz-Jareño N, Fresneda-Machado C, Sáiz-Ayala A, Campos-Castelló J.
    Rev Neurol; 2010 Oct 26; 43(9):535-40. PubMed ID: 17072809
    [Abstract] [Full Text] [Related]

  • 18. 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 Oct 26; 12(2):123-8. PubMed ID: 16807905
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  • 19. Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.
    Matsui M, Mizutani K, Ohtake H, Miki Y, Ishizu K, Fukuyama H, Shimohata T, Onodera O, Nishizawa M, Takayama Y, Shibasaki H.
    Eur Neurol; 2007 Oct 26; 57(1):57-8. PubMed ID: 17119336
    [No Abstract] [Full Text] [Related]

  • 20. 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 26; 29(4):383-8. PubMed ID: 11704758
    [Abstract] [Full Text] [Related]

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