BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

246 related articles for article (PubMed ID: 8411705)

  • 1. [Advances in molecular genetics of the Niemann-Pick group of diseases].
    Ohno K
    Nihon Rinsho; 1993 Sep; 51(9):2293-9. PubMed ID: 8411705
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Niemann-Pick disease types A and B].
    Ohno K
    Nihon Rinsho; 1995 Dec; 53(12):3014-8. PubMed ID: 8577051
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
    Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
    Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
    Tamura H; Takahashi T; Ban N; Torisu H; Ninomiya H; Takada G; Inagaki N
    Mol Genet Metab; 2006 Feb; 87(2):113-21. PubMed ID: 16143556
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.
    Vanier MT
    Wien Klin Wochenschr; 1997 Feb; 109(3):68-73. PubMed ID: 9060145
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
    Dardis A; Zampieri S; Filocamo M; Burlina A; Bembi B; Pittis MG
    Hum Mutat; 2005 Aug; 26(2):164. PubMed ID: 16010684
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
    Horinouchi K; Erlich S; Perl DP; Ferlinz K; Bisgaier CL; Sandhoff K; Desnick RJ; Stewart CL; Schuchman EH
    Nat Genet; 1995 Jul; 10(3):288-93. PubMed ID: 7670466
    [TBL] [Abstract][Full Text] [Related]  

  • 8. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease.
    Barbon CM; Ziegler RJ; Li C; Armentano D; Cherry M; Desnick RJ; Schuchman EH; Cheng SH
    Mol Ther; 2005 Sep; 12(3):431-40. PubMed ID: 16099409
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)].
    Higaki K; Ohno K
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):360-2. PubMed ID: 9645083
    [No Abstract]   [Full Text] [Related]  

  • 10. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
    Levran O; Desnick RJ; Schuchman EH
    J Clin Invest; 1991 Sep; 88(3):806-10. PubMed ID: 1885770
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biosynthesis of sphingomyelinase in normal and Niemann-Pick fibroblasts.
    Jobb EA; Callahan JW
    Biochem Cell Biol; 1989; 67(11-12):801-7. PubMed ID: 2559757
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Study of acid sphingomyelinase in Niemann-Pick mice].
    Sakiyama T; Kitagawa T
    Tanpakushitsu Kakusan Koso; 1991 Feb; 36(3):484-90. PubMed ID: 2024027
    [No Abstract]   [Full Text] [Related]  

  • 13. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
    Mihaylova V; Hantke J; Sinigerska I; Cherninkova S; Raicheva M; Bouwer S; Tincheva R; Khuyomdziev D; Bertranpetit J; Chandler D; Angelicheva D; Kremensky I; Seeman P; Tournev I; Kalaydjieva L
    Brain; 2007 Apr; 130(Pt 4):1050-61. PubMed ID: 17360762
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
    Schuchman EH
    Hum Mutat; 1995; 6(4):352-4. PubMed ID: 8680412
    [No Abstract]   [Full Text] [Related]  

  • 15. Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice.
    Dhami R; Passini MA; Schuchman EH
    Mol Ther; 2006 Mar; 13(3):556-64. PubMed ID: 16214420
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Niemann-Pick disease.
    Elleder M
    Pathol Res Pract; 1989 Sep; 185(3):293-328. PubMed ID: 2682573
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease.
    Passini MA; Macauley SL; Huff MR; Taksir TV; Bu J; Wu IH; Piepenhagen PA; Dodge JC; Shihabuddin LS; O'Riordan CR; Schuchman EH; Stewart GR
    Mol Ther; 2005 May; 11(5):754-62. PubMed ID: 15851014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online.
    Gluck I; Zeigler M; Bargal R; Schiff E; Bach G
    Hum Mutat; 1998; 12(2):136. PubMed ID: 10694919
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
    Ricci V; Stroppiano M; Corsolini F; Di Rocco M; Parenti G; Regis S; Grossi S; Biancheri R; Mazzotti R; Filocamo M
    Hum Mutat; 2004 Jul; 24(1):105. PubMed ID: 15221801
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.
    Schuchman EH
    FEBS Lett; 2010 May; 584(9):1895-900. PubMed ID: 19944693
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.