BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 10923050)

  • 1. 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; 16(2):180-1. PubMed ID: 10923050
    [No Abstract]   [Full Text] [Related]  

  • 2. 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; 212(2):564-71. PubMed ID: 7626071
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
    Neote K; McInnes B; Mahuran DJ; Gravel RA
    J Clin Invest; 1990 Nov; 86(5):1524-31. PubMed ID: 2147027
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Lysosome disease--Sandhoff disease].
    Eguchi I; Wakamatsu N; Nakano R; Tsuji S
    Nihon Rinsho; 1993 Sep; 51(9):2276-80. PubMed ID: 8411702
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. [Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
    Zwierz K; Juszkiewicz J; Arciuch L; Gindzieński A
    Postepy Biochem; 1992; 38(3):127-32. PubMed ID: 1461844
    [No Abstract]   [Full Text] [Related]  

  • 8. [Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression].
    Kohno Y; Yoshizawa T; Ohkoshi N; Tamaoka A; Shoji S
    Rinsho Shinkeigaku; 2001 Jan; 41(1):36-9. PubMed ID: 11433765
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
    McInnes B; Potier M; Wakamatsu N; Melancon SB; Klavins MH; Tsuji S; Mahuran DJ
    J Clin Invest; 1992 Aug; 90(2):306-14. PubMed ID: 1386607
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
    Masri A; Liao J; Kornreich R; Haghighi A
    Eur J Paediatr Neurol; 2014 May; 18(3):399-403. PubMed ID: 24613245
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Isoenzymes of N-acetyl-beta-hexosaminidase.
    Zwierz K; Zalewska A; Zoch-Zwierz A
    Acta Biochim Pol; 1999; 46(3):739-51. PubMed ID: 10698282
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
    Arfi A; Zisling R; Richard E; Batista L; Poenaru L; Futerman AH; Caillaud C
    J Neurochem; 2006 Mar; 96(6):1572-9. PubMed ID: 16441513
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset].
    Rondot P; Navon R; Eymard B; Fardeau M; Turpin JC; Lefevre M; Bathien N; Wu Y; Baumann N
    Rev Neurol (Paris); 1997 Mar; 153(2):120-3. PubMed ID: 9296123
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 13(1):38-43. PubMed ID: 9888387
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Splicing mutation causes infantile Sandhoff disease.
    Gomez-Lira M; Perusi C; Mottes M; Pignatti PF; Rizzuto N; Gatti R; Salviati A
    Am J Med Genet; 1998 Jan; 75(3):330-3. PubMed ID: 9475608
    [No Abstract]   [Full Text] [Related]  

  • 17. A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
    Alvarez-Rodríguez A; Triggs-Raine B; Barros-Núñez P; Lozano CM
    Hum Mutat; 2001 May; 17(5):437. PubMed ID: 11317368
    [No Abstract]   [Full Text] [Related]  

  • 18. Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
    Kanae Y; Endoh D; Yamato O; Hayashi D; Matsunaga S; Ogawa H; Maede Y; Hayashi M
    Res Vet Sci; 2007 Feb; 82(1):54-60. PubMed ID: 16872651
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
    Gomez-Lira M; Sangalli A; Mottes M; Perusi C; Pignatti PF; Rizzuto N; Salviati A
    Hum Genet; 1995 Oct; 96(4):417-22. PubMed ID: 7557963
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?
    Batista L; Miller F; Clave C; Arfi A; Douillard-Guilloux G; Couraud PO; Caillaud C
    Neurobiol Dis; 2010 Mar; 37(3):656-60. PubMed ID: 20005954
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.