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 *

216 related articles for article (PubMed ID: 12707859)

  • 1. Ovarian failure related to eukaryotic initiation factor 2B mutations.
    Fogli A; Rodriguez D; Eymard-Pierre E; Bouhour F; Labauge P; Meaney BF; Zeesman S; Kaneski CR; Schiffmann R; Boespflug-Tanguy O
    Am J Hum Genet; 2003 Jun; 72(6):1544-50. PubMed ID: 12707859
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.
    Fogli A; Gauthier-Barichard F; Schiffmann R; Vanderhoof VH; Bakalov VK; Nelson LM; Boespflug-Tanguy O
    BMC Womens Health; 2004 Oct; 4(1):8. PubMed ID: 15507143
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. The effect of genotype on the natural history of eIF2B-related leukodystrophies.
    Fogli A; Schiffmann R; Bertini E; Ughetto S; Combes P; Eymard-Pierre E; Kaneski CR; Pineda M; Troncoso M; Uziel G; Surtees R; Pugin D; Chaunu MP; Rodriguez D; Boespflug-Tanguy O
    Neurology; 2004 May; 62(9):1509-17. PubMed ID: 15136673
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. eIF2B-related disorders: antenatal onset and involvement of multiple organs.
    van der Knaap MS; van Berkel CG; Herms J; van Coster R; Baethmann M; Naidu S; Boltshauser E; Willemsen MA; Plecko B; Hoffmann GF; Proud CG; Scheper GC; Pronk JC
    Am J Hum Genet; 2003 Nov; 73(5):1199-207. PubMed ID: 14566705
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 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; 39(1):29-32. PubMed ID: 18504679
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 19.
    Moon SL; Parker R
    RNA; 2018 Jun; 24(6):841-852. PubMed ID: 29632131
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of ovarioleukodystrophy without eIF2B mutations.
    Gaudiano C; Di Perri C; Scali O; Rufa A; Battisti C; De Stefano N; Federico A
    J Neurol Sci; 2008 May; 268(1-2):183-6. PubMed ID: 18061208
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.