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262 related items for PubMed ID: 34368854

  • 1. SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
    Zhao X, Feng Z, Risher N, Mollin A, Sheedy J, Ling KKY, Narasimhan J, Dakka A, Baird JD, Ratni H, Lutz C, Chen KS, Naryshkin NA, Ko CP, Welch E, Metzger F, Weetall M.
    Hum Mol Genet; 2021 Dec 17; 31(1):82-96. PubMed ID: 34368854
    [Abstract] [Full Text] [Related]

  • 2. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
    Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH.
    Hum Mol Genet; 2005 Mar 15; 14(6):845-57. PubMed ID: 15703193
    [Abstract] [Full Text] [Related]

  • 3. Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs.
    Poirier A, Weetall M, Heinig K, Bucheli F, Schoenlein K, Alsenz J, Bassett S, Ullah M, Senn C, Ratni H, Naryshkin N, Paushkin S, Mueller L.
    Pharmacol Res Perspect; 2018 Dec 15; 6(6):e00447. PubMed ID: 30519476
    [Abstract] [Full Text] [Related]

  • 4. Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy.
    Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, Petruska J, Narasimhan J, Dakka A, Welch EM, Karp G, Chen KS, Metzger F, Ratni H, Lotti F, Tisdale S, Naryshkin NA, Pellizzoni L, Paushkin S, Ko CP, Weetall M.
    Hum Mol Genet; 2016 May 15; 25(10):1885-1899. PubMed ID: 26931466
    [Abstract] [Full Text] [Related]

  • 5. Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
    Dominguez CE, Cunningham D, Venkataramany AS, Chandler DS.
    Hum Genet; 2022 Feb 15; 141(2):239-256. PubMed ID: 35088120
    [Abstract] [Full Text] [Related]

  • 6. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.
    Cobb MS, Rose FF, Rindt H, Glascock JJ, Shababi M, Miller MR, Osman EY, Yen PF, Garcia ML, Martin BR, Wetz MJ, Mazzasette C, Feng Z, Ko CP, Lorson CL.
    Hum Mol Genet; 2013 May 01; 22(9):1843-55. PubMed ID: 23390132
    [Abstract] [Full Text] [Related]

  • 7. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.
    Bebee TW, Dominguez CE, Samadzadeh-Tarighat S, Akehurst KL, Chandler DS.
    Hum Mol Genet; 2012 Oct 01; 21(19):4301-13. PubMed ID: 22763238
    [Abstract] [Full Text] [Related]

  • 8. Optimization of SMN trans-splicing through the analysis of SMN introns.
    Shababi M, Lorson CL.
    J Mol Neurosci; 2012 Mar 01; 46(3):459-69. PubMed ID: 21826391
    [Abstract] [Full Text] [Related]

  • 9. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
    Yuo CY, Lin HH, Chang YS, Yang WK, Chang JG.
    Ann Neurol; 2008 Jan 01; 63(1):26-34. PubMed ID: 17924536
    [Abstract] [Full Text] [Related]

  • 10. Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
    Feng Z, Ling KK, Zhao X, Zhou C, Karp G, Welch EM, Naryshkin N, Ratni H, Chen KS, Metzger F, Paushkin S, Weetall M, Ko CP.
    Hum Mol Genet; 2016 Mar 01; 25(5):964-75. PubMed ID: 26758873
    [Abstract] [Full Text] [Related]

  • 11. Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.
    Groen EJN, Perenthaler E, Courtney NL, Jordan CY, Shorrock HK, van der Hoorn D, Huang YT, Murray LM, Viero G, Gillingwater TH.
    Hum Mol Genet; 2018 Aug 15; 27(16):2851-2862. PubMed ID: 29790918
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 Apr 15; 11(12):e0167077. PubMed ID: 27907033
    [Abstract] [Full Text] [Related]

  • 14. Splicing of the Survival Motor Neuron genes and implications for treatment of SMA.
    Bebee TW, Gladman JT, Chandler DS.
    Front Biosci (Landmark Ed); 2010 Jun 01; 15(3):1191-1204. PubMed ID: 20515750
    [Abstract] [Full Text] [Related]

  • 15. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.
    Williams JH, Schray RC, Patterson CA, Ayitey SO, Tallent MK, Lutz GJ.
    J Neurosci; 2009 Jun 17; 29(24):7633-8. PubMed ID: 19535574
    [Abstract] [Full Text] [Related]

  • 16. The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy.
    Kletzl H, Marquet A, Günther A, Tang W, Heuberger J, Groeneveld GJ, Birkhoff W, Mercuri E, Lochmüller H, Wood C, Fischer D, Gerlach I, Heinig K, Bugawan T, Dziadek S, Kinch R, Czech C, Khwaja O.
    Neuromuscul Disord; 2019 Jan 17; 29(1):21-29. PubMed ID: 30553700
    [Abstract] [Full Text] [Related]

  • 17. A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.
    Gladman JT, Bebee TW, Edwards C, Wang X, Sahenk Z, Rich MM, Chandler DS.
    Hum Mol Genet; 2010 Nov 01; 19(21):4239-52. PubMed ID: 20705738
    [Abstract] [Full Text] [Related]

  • 18. Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.
    Pagliarini V, Guerra M, Di Rosa V, Compagnucci C, Sette C.
    J Neurochem; 2020 Apr 01; 153(2):264-275. PubMed ID: 31811660
    [Abstract] [Full Text] [Related]

  • 19. Securinine enhances SMN2 exon 7 inclusion in spinal muscular atrophy cells.
    Chen YC, Chang JG, Liu TY, Jong YJ, Cheng WL, Yuo CY.
    Biomed Pharmacother; 2017 Apr 01; 88():708-714. PubMed ID: 28152480
    [Abstract] [Full Text] [Related]

  • 20. Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy.
    Liu H, Shafey D, Moores JN, Kothary R.
    J Neurosci Res; 2010 Jan 01; 88(1):111-22. PubMed ID: 19642194
    [Abstract] [Full Text] [Related]

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