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Journal Abstract Search

138 related items for PubMed ID: 8535449

  • 1. A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
    Gomez-Lira M, Perusi C, Brutti N, Farnetani MA, Margollicci MA, Rizzuto N, Pignatti PF, Salviati A.
    Hum Mutat; 1995; 6(3):260-2. PubMed ID: 8535449
    [No Abstract] [Full Text] [Related]

  • 2. A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.
    Gomez-Lira M, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Gatti R, Salviati A.
    Mol Cell Probes; 2001 Apr; 15(2):75-9. PubMed ID: 11292324
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  • 3. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
    Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, Ricci E, Tonali PA, Silvestri G.
    Mol Genet Metab; 2007 May; 91(1):111-4. PubMed ID: 17251047
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  • 5. [Lysosome disease--Sandhoff disease].
    Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
    Nihon Rinsho; 1993 Sep; 51(9):2276-80. PubMed ID: 8411702
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  • 8. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
    Furihata K, Drousiotou A, Hara Y, Christopoulos G, Stylianidou G, Anastasiadou V, Ueno I, Ioannou P.
    Hum Mutat; 1999 Sep; 13(1):38-43. PubMed ID: 9888387
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  • 10. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
    McInnes B, Brown CA, Mahuran DJ.
    Biochim Biophys Acta; 1992 Apr 14; 1138(4):315-7. PubMed ID: 1532910
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  • 12. A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
    Lee EH, Park JH, Coe CJ, Hahn SH.
    Hum Mutat; 2000 Aug 14; 16(2):180-1. PubMed ID: 10923050
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  • 13. A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
    Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H.
    Biochem Biophys Res Commun; 1995 Jul 17; 212(2):564-71. PubMed ID: 7626071
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  • 14. An inversion of 25 base pairs causes feline GM2 gangliosidosis variant.
    Martin DR, Krum BK, Varadarajan GS, Hathcock TL, Smith BF, Baker HJ.
    Exp Neurol; 2004 May 17; 187(1):30-7. PubMed ID: 15081585
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  • 16. Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
    Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Kuwahara J, Yamanaka S, Itoh K.
    J Neurochem; 2005 Mar 17; 92(6):1497-507. PubMed ID: 15748167
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  • 19. Metabolic correction in microglia derived from Sandhoff disease model mice.
    Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Itoh K.
    J Neurochem; 2005 Sep 17; 94(6):1631-8. PubMed ID: 16092933
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