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253 related items for PubMed ID: 22611636

  • 1. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Eke GH, Iscan A, Cece H, Calik M.
    Genet Couns; 2012; 23(1):9-12. PubMed ID: 22611636
    [Abstract] [Full Text] [Related]

  • 2. 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; 2(3):165-75. PubMed ID: 10894262
    [Abstract] [Full Text] [Related]

  • 3. 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; 54(3):208-10. PubMed ID: 17999961
    [Abstract] [Full Text] [Related]

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

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 Oct; 4(1):27-30. PubMed ID: 10701101
    [Abstract] [Full Text] [Related]

  • 9. Canavan disease: studies on the knockout mouse.
    Matalon R, Michals-Matalon K, Surendran S, Tyring SK.
    Adv Exp Med Biol; 2006 Oct; 576():77-93; discussion 361-3. PubMed ID: 16802706
    [Abstract] [Full Text] [Related]

  • 10. Expression of aspartoacylase (ASPA) and Canavan disease.
    Sommer A, Sass JO.
    Gene; 2012 Sep 01; 505(2):206-10. PubMed ID: 22750302
    [Abstract] [Full Text] [Related]

  • 11. [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 01; 14(2):173-6. PubMed ID: 17196380
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 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 01; 11(5):745-53. PubMed ID: 15851013
    [Abstract] [Full Text] [Related]

  • 14. Atypical clinical and radiological course of a patient with Canavan disease.
    Sarret C, Boespflug-Tanguy O, Rodriguez D.
    Metab Brain Dis; 2016 Apr 01; 31(2):475-9. PubMed ID: 26586007
    [Abstract] [Full Text] [Related]

  • 15. Aspartoacylase gene knockout in the mouse: impact on reproduction.
    Surendran S, Szucs S, Tyring SK, Matalon R.
    Reprod Toxicol; 2005 Apr 01; 20(2):281-3. PubMed ID: 15907664
    [Abstract] [Full Text] [Related]

  • 16. A case of Canavan disease with microcephaly.
    Gowda VK, Bhat MD, Srinivasan VM, Prasad C, Benakappa A, Faruq M.
    Brain Dev; 2016 Sep 01; 38(8):759-62. PubMed ID: 26992473
    [Abstract] [Full Text] [Related]

  • 17. [Megalencephaly with dystonia revealing Canavan disease].
    Maaloul I, Fourati H, Wali M, Chabchoub I, Kamoun T, Mnif Z, Kaabachi N, Hachicha M.
    Arch Pediatr; 2013 Jul 01; 20(7):783-6. PubMed ID: 23727372
    [Abstract] [Full Text] [Related]

  • 18. Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse.
    Surendran S, Campbell GA, Tyring SK, Matalon R.
    Neurobiol Dis; 2005 Mar 01; 18(2):385-9. PubMed ID: 15686967
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 5(2):118-23. PubMed ID: 8252036
    [Abstract] [Full Text] [Related]

  • 20. Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
    Traka M, Wollmann RL, Cerda SR, Dugas J, Barres BA, Popko B.
    J Neurosci; 2008 Nov 05; 28(45):11537-49. PubMed ID: 18987190
    [Abstract] [Full Text] [Related]

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