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PUBMED FOR HANDHELDS

Journal Abstract Search


261 related items for PubMed ID: 24036223

  • 1. 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; 46(18):1902-4. PubMed ID: 24036223
    [Abstract] [Full Text] [Related]

  • 2. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Eke GH, Iscan A, Cece H, Calik M.
    Genet Couns; 2012 Dec; 23(1):9-12. PubMed ID: 22611636
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  • 3. Atypical MRI findings in Canavan disease: a patient with a mild course.
    Yalcinkaya C, Benbir G, Salomons GS, Karaarslan E, Rolland MO, Jakobs C, van der Knaap MS.
    Neuropediatrics; 2005 Oct; 36(5):336-9. PubMed ID: 16217711
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  • 4. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
    Matalon R, Rady PL, Platt KA, Skinner HB, Quast MJ, Campbell GA, Matalon K, Ceci JD, Tyring SK, Nehls M, Surendran S, Wei J, Ezell EL, Szucs S.
    J Gene Med; 2000 Oct; 2(3):165-75. PubMed ID: 10894262
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  • 5. 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; 73(3):288-9. PubMed ID: 18070137
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  • 11. 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; 36(4):252-5. PubMed ID: 16138249
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  • 12. Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
    von Jonquieres G, Spencer ZHT, Rowlands BD, Klugmann CB, Bongers A, Harasta AE, Parley KE, Cederholm J, Teahan O, Pickford R, Delerue F, Ittner LM, Fröhlich D, McLean CA, Don AS, Schneider M, Housley GD, Rae CD, Klugmann M.
    Acta Neuropathol; 2018 Jan; 135(1):95-113. PubMed ID: 29116375
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  • 13. 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; 11(5):745-53. PubMed ID: 15851013
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  • 16. Canavan disease: a review of recent developments.
    Gordon N.
    Eur J Paediatr Neurol; 2001 May; 5(2):65-9. PubMed ID: 11589315
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  • 17. Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Rady PL, Penzien JM, Vargas T, Tyring SK, Matalon R.
    Eur J Paediatr Neurol; 2000 May; 4(1):27-30. PubMed ID: 10701101
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  • 18. A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
    Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.
    Mol Biol Rep; 2012 May; 39(5):6197-201. PubMed ID: 22219087
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  • 19. [Canavan disease or N-acetyl aspartic aciduria: a case report].
    Boughamoura L, Chaabane F, Tilouche S, Chabchoub I, Kabachi N, Tlili K, Yacoub M, Essoussi AS.
    Arch Pediatr; 2007 Feb; 14(2):173-6. PubMed ID: 17196380
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  • 20. Atypical clinical and radiological course of a patient with Canavan disease.
    Sarret C, Boespflug-Tanguy O, Rodriguez D.
    Metab Brain Dis; 2016 Apr; 31(2):475-9. PubMed ID: 26586007
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