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Journal Abstract Search

139 related items for PubMed ID: 18280251

  • 1. A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
    Di Pietro V, Gambacurta A, Amorini AM, Finocchiaro A, D'Urso S, Ceccarelli L, Tavazzi B, Giardina B, Lazzarino G.
    Clin Biochem; 2008 May; 41(7-8):611-5. PubMed ID: 18280251
    [Abstract] [Full Text] [Related]

  • 2. Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
    Herga S, Berrin JG, Perrier J, Puigserver A, Giardina T.
    FEBS Lett; 2006 Oct 30; 580(25):5899-904. PubMed ID: 17027983
    [Abstract] [Full Text] [Related]

  • 3. Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.
    Velinov M, Zellers N, Styles J, Wisniewski K.
    Clin Genet; 2008 Mar 30; 73(3):288-9. PubMed ID: 18070137
    [No Abstract] [Full Text] [Related]

  • 4. A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.
    Propheta O, Magal N, Shohat M, Eyal N, Navot N, Horowitz M.
    Eur J Hum Genet; 1998 Mar 30; 6(6):635-7. PubMed ID: 9887384
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  • 5. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
    Kaul R, Gao GP, Balamurugan K, Matalon R.
    Nat Genet; 1993 Oct 30; 5(2):118-23. PubMed ID: 8252036
    [Abstract] [Full Text] [Related]

  • 6. Mutational analysis of aspartoacylase: implications for Canavan disease.
    Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA.
    Brain Res; 2007 May 07; 1148():1-14. PubMed ID: 17391648
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  • 8. Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Unalp A, Altiok E, Uran N, Oztürk A, Yüksel S.
    J Trop Pediatr; 2008 Jun 07; 54(3):208-10. PubMed ID: 17999961
    [Abstract] [Full Text] [Related]

  • 9. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
    Di Pietro V, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B.
    Clin Biochem; 2013 Dec 07; 46(18):1902-4. PubMed ID: 24036223
    [Abstract] [Full Text] [Related]

  • 10. A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
    Durmaz AA, Akin H, Onay H, Vahabi A, Ozkinay F.
    Fetal Pediatr Pathol; 2012 Aug 07; 31(4):236-9. PubMed ID: 22468686
    [Abstract] [Full Text] [Related]

  • 11. Purification and preliminary characterization of brain aspartoacylase.
    Moore RA, Le Coq J, Faehnle CR, Viola RE.
    Arch Biochem Biophys; 2003 May 01; 413(1):1-8. PubMed ID: 12706335
    [Abstract] [Full Text] [Related]

  • 12. Canavan disease: diagnosis and molecular analysis.
    Matalon R.
    Genet Test; 1997 May 01; 1(1):21-5. PubMed ID: 10464621
    [Abstract] [Full Text] [Related]

  • 13. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
    Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.
    Neuropediatrics; 2005 Aug 01; 36(4):252-5. PubMed ID: 16138249
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  • 14. Aspartoacylase gene knockout in the mouse: impact on reproduction.
    Surendran S, Szucs S, Tyring SK, Matalon R.
    Reprod Toxicol; 2005 Aug 01; 20(2):281-3. PubMed ID: 15907664
    [Abstract] [Full Text] [Related]

  • 15. Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease.
    Klugmann M, Leichtlein CB, Symes CW, Serikawa T, Young D, During MJ.
    Mol Ther; 2005 May 01; 11(5):745-53. PubMed ID: 15851013
    [Abstract] [Full Text] [Related]

  • 16. Canavan disease: a novel mutation.
    Schober H, Luetschg J, Hoeliner I, Kalb S, Simma B.
    Pediatr Neurol; 2011 Oct 01; 45(4):256-8. PubMed ID: 21907889
    [Abstract] [Full Text] [Related]

  • 17. Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
    Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH.
    Adv Exp Med Biol; 2006 Oct 01; 576():165-73; discussion 361-3. PubMed ID: 16802711
    [No Abstract] [Full Text] [Related]

  • 18. Recent advances in Canavan disease.
    Matalon R, Michals-Matalon K.
    Adv Pediatr; 1999 Oct 01; 46():493-506. PubMed ID: 10645473
    [Abstract] [Full Text] [Related]

  • 19. Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
    Al-Dirbashi OY, Kurdi W, Imtiaz F, Ahmad AM, Al-Sayed M, Tulbah M, Al-Nemer M, Rashed MS.
    Prenat Diagn; 2009 May 01; 29(5):477-80. PubMed ID: 19235826
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