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Journal Abstract Search

239 related items for PubMed ID: 34302176

  • 1. A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons.
    Tay SH, Ellieyana EN, Le Y, Sarusie MV, Grimm C, Ohmer J, Mathuru AS, Fischer U, Winkler C.
    Hum Mol Genet; 2021 Nov 30; 30(24):2488-2502. PubMed ID: 34302176
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  • 2. Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy.
    Deguise MO, De Repentigny Y, Tierney A, Beauvais A, Michaud J, Chehade L, Thabet M, Paul B, Reilly A, Gagnon S, Renaud JM, Kothary R.
    EBioMedicine; 2020 May 30; 55():102750. PubMed ID: 32339936
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  • 3. Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.
    Boon KL, Xiao S, McWhorter ML, Donn T, Wolf-Saxon E, Bohnsack MT, Moens CB, Beattie CE.
    Hum Mol Genet; 2009 Oct 01; 18(19):3615-25. PubMed ID: 19592581
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  • 5. 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
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  • 9. 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
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  • 13. 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
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  • 14. 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
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  • 15. Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.
    Martinez TL, Kong L, Wang X, Osborne MA, Crowder ME, Van Meerbeke JP, Xu X, Davis C, Wooley J, Goldhamer DJ, Lutz CM, Rich MM, Sumner CJ.
    J Neurosci; 2012 Jun 20; 32(25):8703-15. PubMed ID: 22723710
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  • 16. Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells.
    Lin X, Li JJ, Qian WJ, Zhang QJ, Wang ZF, Lu YQ, Dong EL, He J, Wang N, Ma LX, Chen WJ.
    Oncotarget; 2017 Jun 27; 8(26):42030-42042. PubMed ID: 28159932
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  • 17. 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
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  • 18. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
    Niba ETE, Nishio H, Wijaya YOS, Lai PS, Tozawa T, Chiyonobu T, Yamadera M, Okamoto K, Awano H, Takeshima Y, Saito T, Shinohara M.
    Brain Dev; 2021 Feb 15; 43(2):294-302. PubMed ID: 33036822
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  • 19. Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis.
    Grice SJ, Liu JL.
    PLoS Genet; 2022 Jul 15; 18(7):e1010325. PubMed ID: 35877682
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  • 20. Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.
    Hunter G, Powis RA, Jones RA, Groen EJ, Shorrock HK, Lane FM, Zheng Y, Sherman DL, Brophy PJ, Gillingwater TH.
    Hum Mol Genet; 2016 Jul 01; 25(13):2853-2861. PubMed ID: 27170316
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