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Journal Abstract Search

294 related items for PubMed ID: 11303798

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  • 3. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
    Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, Morris GE, Burghes AH.
    Hum Mol Genet; 2000 Feb 12; 9(3):333-9. PubMed ID: 10655541
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  • 5. A mouse model for spinal muscular atrophy.
    Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, Li H.
    Nat Genet; 2000 Jan 12; 24(1):66-70. PubMed ID: 10615130
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  • 6. Therapeutics development for spinal muscular atrophy.
    Sumner CJ.
    NeuroRx; 2006 Apr 12; 3(2):235-45. PubMed ID: 16554261
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  • 7. Molecular and cellular basis of spinal muscular atrophy.
    Jablonka S, Sendtner M.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2003 Sep 12; 4(3):144-9. PubMed ID: 13129800
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  • 9. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
    Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH.
    J Cell Biol; 2003 Jan 06; 160(1):41-52. PubMed ID: 12515823
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  • 12. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells.
    Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH.
    Ann Neurol; 2005 Aug 06; 58(2):194-202. PubMed ID: 16049920
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  • 13. Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
    Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M.
    Eur J Hum Genet; 2004 Sep 06; 12(9):729-37. PubMed ID: 15162126
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  • 14. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
    Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B.
    Am J Hum Genet; 2002 Feb 06; 70(2):358-68. PubMed ID: 11791208
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  • 16. Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.
    Vitali T, Sossi V, Tiziano F, Zappata S, Giuli A, Paravatou-Petsotas M, Neri G, Brahe C.
    Hum Mol Genet; 1999 Dec 06; 8(13):2525-32. PubMed ID: 10556301
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  • 17. A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
    Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M.
    Eur J Hum Genet; 2007 Oct 06; 15(10):1054-62. PubMed ID: 17609673
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  • 19. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
    Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J.
    J Med Chem; 2008 Feb 14; 51(3):449-69. PubMed ID: 18205293
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