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325 related items for PubMed ID: 19329542

  • 1. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
    Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH.
    Hum Mol Genet; 2009 Jun 15; 18(12):2215-29. PubMed ID: 19329542
    [Abstract] [Full Text] [Related]

  • 2. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
    McGovern VL, Kray KM, Arnold WD, Duque SI, Iyer CC, Massoni-Laporte A, Workman E, Patel A, Battle DJ, Burghes AHM.
    Hum Mol Genet; 2020 Nov 01; 29(21):3493-3503. PubMed ID: 33084884
    [Abstract] [Full Text] [Related]

  • 3. Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
    Iyer CC, Corlett KM, Massoni-Laporte A, Duque SI, Madabusi N, Tisdale S, McGovern VL, Le TT, Zaworski PG, Arnold WD, Pellizzoni L, Burghes AHM.
    Hum Mol Genet; 2018 Oct 01; 27(19):3404-3416. PubMed ID: 29982416
    [Abstract] [Full Text] [Related]

  • 4. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
    Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, Wirth B.
    Hum Mol Genet; 2010 Apr 15; 19(8):1492-506. PubMed ID: 20097677
    [Abstract] [Full Text] [Related]

  • 5. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.
    Hum Mutat; 2005 Jan 15; 25(1):64-71. PubMed ID: 15580564
    [Abstract] [Full Text] [Related]

  • 6. Conditional deletion of SMN in cell culture identifies functional SMN alleles.
    Blatnik AJ, McGovern VL, Le TT, Iyer CC, Kaspar BK, Burghes AHM.
    Hum Mol Genet; 2020 Nov 01; 29(21):3477-3492. PubMed ID: 33075805
    [Abstract] [Full Text] [Related]

  • 7. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
    Kannan A, Jiang X, He L, Ahmad S, Gangwani L.
    Brain; 2020 Jan 01; 143(1):69-93. PubMed ID: 31828288
    [Abstract] [Full Text] [Related]

  • 8. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.
    Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR.
    Nature; 2011 Oct 05; 478(7367):123-6. PubMed ID: 21979052
    [Abstract] [Full Text] [Related]

  • 9. Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration.
    Arnold WD, Duque S, Iyer CC, Zaworski P, McGovern VL, Taylor SJ, von Herrmann KM, Kobayashi DT, Chen KS, Kolb SJ, Paushkin SV, Burghes AH.
    PLoS One; 2016 Oct 05; 11(12):e0167077. PubMed ID: 27907033
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
    Doktor TK, Hua Y, Andersen HS, Brøner S, Liu YH, Wieckowska A, Dembic M, Bruun GH, Krainer AR, Andresen BS.
    Nucleic Acids Res; 2017 Jan 09; 45(1):395-416. PubMed ID: 27557711
    [Abstract] [Full Text] [Related]

  • 13. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.
    Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L.
    PLoS One; 2007 Sep 26; 2(9):e921. PubMed ID: 17895963
    [Abstract] [Full Text] [Related]

  • 14. The DcpS inhibitor RG3039 improves motor function in SMA mice.
    Van Meerbeke JP, Gibbs RM, Plasterer HL, Miao W, Feng Z, Lin MY, Rucki AA, Wee CD, Xia B, Sharma S, Jacques V, Li DK, Pellizzoni L, Rusche JR, Ko CP, Sumner CJ.
    Hum Mol Genet; 2013 Oct 15; 22(20):4074-83. PubMed ID: 23727836
    [Abstract] [Full Text] [Related]

  • 15. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.
    Ahmad S, Wang Y, Shaik GM, Burghes AH, Gangwani L.
    Hum Mol Genet; 2012 Jun 15; 21(12):2745-58. PubMed ID: 22422766
    [Abstract] [Full Text] [Related]

  • 16. What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.
    Blatnik AJ, McGovern VL, Burghes AHM.
    Int J Mol Sci; 2021 Aug 06; 22(16):. PubMed ID: 34445199
    [Abstract] [Full Text] [Related]

  • 17. SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.
    McGovern VL, Iyer CC, Arnold WD, Gombash SE, Zaworski PG, Blatnik AJ, Foust KD, Burghes AH.
    Hum Mol Genet; 2015 Oct 01; 24(19):5524-41. PubMed ID: 26206889
    [Abstract] [Full Text] [Related]

  • 18. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
    Butchbach ME, Singh J, Thorsteinsdóttir M, Saieva L, Slominski E, Thurmond J, Andrésson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME.
    Hum Mol Genet; 2010 Feb 01; 19(3):454-67. PubMed ID: 19897588
    [Abstract] [Full Text] [Related]

  • 19. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.
    See K, Yadav P, Giegerich M, Cheong PS, Graf M, Vyas H, Lee SG, Mathavan S, Fischer U, Sendtner M, Winkler C.
    Hum Mol Genet; 2014 Apr 01; 23(7):1754-70. PubMed ID: 24218366
    [Abstract] [Full Text] [Related]

  • 20. Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.
    Iyer CC, McGovern VL, Murray JD, Gombash SE, Zaworski PG, Foust KD, Janssen PM, Burghes AH.
    Hum Mol Genet; 2015 Nov 01; 24(21):6160-73. PubMed ID: 26276812
    [Abstract] [Full Text] [Related]

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