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802 related items for PubMed ID: 28132687

  • 1. Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
    Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.
    Am J Hum Genet; 2017 Feb 02; 100(2):297-315. PubMed ID: 28132687
    [Abstract] [Full Text] [Related]

  • 2. The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
    Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.
    Am J Hum Genet; 2016 Sep 01; 99(3):647-665. PubMed ID: 27499521
    [Abstract] [Full Text] [Related]

  • 3. CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
    Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.
    Brain; 2018 Aug 01; 141(8):2343-2361. PubMed ID: 29961886
    [Abstract] [Full Text] [Related]

  • 4. NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
    Torres-Benito L, Schneider S, Rombo R, Ling KK, Grysko V, Upadhyay A, Kononenko NL, Rigo F, Bennett CF, Wirth B.
    Am J Hum Genet; 2019 Jul 03; 105(1):221-230. PubMed ID: 31230718
    [Abstract] [Full Text] [Related]

  • 5. Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
    Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B.
    Cell Mol Life Sci; 2016 May 03; 73(10):2089-104. PubMed ID: 26573968
    [Abstract] [Full Text] [Related]

  • 6. Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.
    Muiños-Bühl A, Rombo R, Ling KK, Zilio E, Rigo F, Bennett CF, Wirth B.
    Int J Mol Sci; 2023 Feb 20; 24(4):. PubMed ID: 36835624
    [Abstract] [Full Text] [Related]

  • 7. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.
    McGovern VL, Massoni-Laporte A, Wang X, Le TT, Le HT, Beattie CE, Rich MM, Burghes AH.
    PLoS One; 2015 Feb 20; 10(7):e0132364. PubMed ID: 26134627
    [Abstract] [Full Text] [Related]

  • 8. Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks.
    Muinos-Bühl A, Rombo R, Janzen E, Ling KK, Hupperich K, Rigo F, Bennett CF, Wirth B.
    Neurobiol Dis; 2022 Sep 20; 171():105795. PubMed ID: 35724821
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
    Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.
    PLoS One; 2018 Jan 01; 13(9):e0203398. PubMed ID: 30188931
    [Abstract] [Full Text] [Related]

  • 12. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
    Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM.
    Hum Genet; 2019 Mar 01; 138(3):241-256. PubMed ID: 30788592
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.
    Walsh MB, Janzen E, Wingrove E, Hosseinibarkooie S, Muela NR, Davidow L, Dimitriadi M, Norabuena EM, Rubin LL, Wirth B, Hart AC.
    BMC Biol; 2020 Sep 16; 18(1):127. PubMed ID: 32938453
    [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. Modifier genes: Moving from pathogenesis to therapy.
    McCabe ERB.
    Mol Genet Metab; 2017 Sep 15; 122(1-2):1-3. PubMed ID: 28684086
    [Abstract] [Full Text] [Related]

  • 17. Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene.
    Seo J, Singh NN, Ottesen EW, Sivanesan S, Shishimorova M, Singh RN.
    PLoS One; 2016 Sep 15; 11(4):e0154390. PubMed ID: 27111068
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
    Butchbach MER.
    Int J Mol Sci; 2021 Jul 23; 22(15):. PubMed ID: 34360669
    [Abstract] [Full Text] [Related]

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