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130 related items for PubMed ID: 11392526

  • 1. 31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.
    Felderhoff-Mueser U, Sperner J, Konstanzcak P, Navon R, Weschke B.
    J Child Neurol; 2001 May; 16(5):377-80. PubMed ID: 11392526
    [Abstract] [Full Text] [Related]

  • 2. Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
    Navon R, Kolodny EH, Mitsumoto H, Thomas GH, Proia RL.
    Am J Hum Genet; 1990 Apr; 46(4):817-21. PubMed ID: 2278539
    [Abstract] [Full Text] [Related]

  • 3. [Tay-Sachs disease].
    Tanaka A.
    Nihon Rinsho; 1993 Sep; 51(9):2281-5. PubMed ID: 8411703
    [Abstract] [Full Text] [Related]

  • 4. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R.
    Hum Mutat; 1997 Sep; 9(3):195-208. PubMed ID: 9090523
    [Abstract] [Full Text] [Related]

  • 5. Tay-Sachs disease: a case report.
    Arisoy AE, Ozden S, Ciliv G, Ozalp I.
    Turk J Pediatr; 1995 Sep; 37(1):51-6. PubMed ID: 7732608
    [Abstract] [Full Text] [Related]

  • 6. The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
    Navon R, Proia RL.
    Science; 1989 Mar 17; 243(4897):1471-4. PubMed ID: 2522679
    [Abstract] [Full Text] [Related]

  • 7. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
    Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH.
    Genet Med; 2005 Feb 17; 7(2):119-23. PubMed ID: 15714079
    [Abstract] [Full Text] [Related]

  • 8. Late-onset Tay-Sachs disease.
    Barritt AW, Anderson SJ, Leigh PN, Ridha BH.
    Pract Neurol; 2017 Oct 17; 17(5):396-399. PubMed ID: 28739864
    [Abstract] [Full Text] [Related]

  • 9. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.
    Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ.
    Neurology; 1981 Jul 17; 31(7):787-98. PubMed ID: 6454083
    [Abstract] [Full Text] [Related]

  • 10. GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
    Christopher R, Rangaswamy GR, Shetty KT.
    Indian J Pediatr; 1995 Jul 17; 62(4):479-83. PubMed ID: 10829909
    [Abstract] [Full Text] [Related]

  • 11. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
    Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, Proia RL.
    Nat Genet; 1995 Oct 17; 11(2):170-6. PubMed ID: 7550345
    [Abstract] [Full Text] [Related]

  • 12. [Tay-Sachs disease in non-Jewish infant in Israel].
    Nadim N.
    Harefuah; 2012 Jan 17; 151(1):16-7, 63. PubMed ID: 22670494
    [Abstract] [Full Text] [Related]

  • 13. Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
    Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV.
    J Child Neurol; 2006 Jun 17; 21(6):540-4. PubMed ID: 16948947
    [Abstract] [Full Text] [Related]

  • 14. Proton MR spectroscopy in three children with Tay-Sachs disease.
    Aydin K, Bakir B, Tatli B, Terzibasioglu E, Ozmen M.
    Pediatr Radiol; 2005 Nov 17; 35(11):1081-5. PubMed ID: 16079982
    [Abstract] [Full Text] [Related]

  • 15. Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.
    Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF.
    J Clin Psychiatry; 1995 Aug 17; 56(8):347-53. PubMed ID: 7635850
    [Abstract] [Full Text] [Related]

  • 16. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
    Hund E, Grau A, Fogel W, Forsting M, Cantz M, Kustermann-Kuhn B, Harzer K, Navon R, Goebel HH, Meinck HM.
    J Neurol Sci; 1997 Jan 17; 145(1):25-31. PubMed ID: 9073025
    [Abstract] [Full Text] [Related]

  • 17. Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
    De Gasperi R, Gama Sosa MA, Battistini S, Yeretsian J, Raghavan S, Zelnik N, Leshinsky E, Kolodny EH.
    Neurology; 1996 Aug 17; 47(2):547-52. PubMed ID: 8757036
    [Abstract] [Full Text] [Related]

  • 18. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.
    Miklyaeva EI, Dong W, Bureau A, Fattahie R, Xu Y, Su M, Fick GH, Huang JQ, Igdoura S, Hanai N, Gravel RA.
    Brain Res; 2004 Mar 19; 1001(1-2):37-50. PubMed ID: 14972652
    [Abstract] [Full Text] [Related]

  • 19. [Hexosaminidase deficiency as differential spinocerebellar diseases].
    Förster A, Heuss D, Claus D.
    Nervenarzt; 1999 Feb 19; 70(2):162-6. PubMed ID: 10098152
    [Abstract] [Full Text] [Related]

  • 20. [Magnetic resonance imaging in Tay-Sachs disease].
    Ozawa H, Sugai K, Sasaki S.
    No To Shinkei; 1995 Aug 19; 47(8):800-1. PubMed ID: 7546928
    [No Abstract] [Full Text] [Related]

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