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Journal Abstract Search

261 related items for PubMed ID: 8252036

  • 1.
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  • 2. Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
    Kaul R, Balamurugan K, Gao GP, Matalon R.
    Genomics; 1994 May 15; 21(2):364-70. PubMed ID: 8088831
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  • 3. 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
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  • 4. Canavan disease: a novel mutation.
    Schober H, Luetschg J, Hoeliner I, Kalb S, Simma B.
    Pediatr Neurol; 2011 Oct 30; 45(4):256-8. PubMed ID: 21907889
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  • 5. 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 30; 54(3):208-10. PubMed ID: 17999961
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  • 7. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
    Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.
    Eur J Hum Genet; 2000 Jul 30; 8(7):557-60. PubMed ID: 10909858
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  • 9. 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 Jul 30; 6(6):635-7. PubMed ID: 9887384
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  • 11. 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 Jul 30; 2(3):165-75. PubMed ID: 10894262
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  • 13. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
    Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.
    J Inherit Metab Dis; 2002 Nov 30; 25(7):557-70. PubMed ID: 12638939
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  • 14. Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
    Elpeleg ON, Shaag A, Anikster Y, Jakobs C.
    J Inherit Metab Dis; 1994 Nov 30; 17(6):664-6. PubMed ID: 7707689
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  • 15. 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 30; 36(4):252-5. PubMed ID: 16138249
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  • 16. 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 30; 36(5):336-9. PubMed ID: 16217711
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  • 18. Canavan disease: biochemical and molecular studies.
    Matalon R, Kaul R, Michals K.
    J Inherit Metab Dis; 1993 Oct 30; 16(4):744-52. PubMed ID: 8412017
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  • 19. [Canavan disease (aspartoacylase deficiency)].
    Kobayashi K, Sakuragawa N.
    Ryoikibetsu Shokogun Shirizu; 1998 Oct 30; (18 Pt 1):385-8. PubMed ID: 9590077
    [No Abstract] [Full Text] [Related]

  • 20. Aspartoacylase gene knockout in the mouse: impact on reproduction.
    Surendran S, Szucs S, Tyring SK, Matalon R.
    Reprod Toxicol; 2005 Oct 30; 20(2):281-3. PubMed ID: 15907664
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