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Journal Abstract Search

973 related items for PubMed ID: 18178576

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  • 2. 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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  • 4. Therapeutics development for spinal muscular atrophy.
    Sumner CJ.
    NeuroRx; 2006 Apr 12; 3(2):235-45. PubMed ID: 16554261
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  • 6. 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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  • 9. 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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  • 10. 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
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  • 11. 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 15; 63(1):26-34. PubMed ID: 17924536
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  • 12. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.
    Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R.
    Hum Genet; 2006 May 15; 119(4):422-8. PubMed ID: 16508748
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  • 13. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
    Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH.
    Neurology; 2005 Sep 27; 65(6):820-5. PubMed ID: 16093455
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  • 14. 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
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  • 16. In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement.
    Sangiuolo F, Filareto A, Spitalieri P, Scaldaferri ML, Mango R, Bruscia E, Citro G, Brunetti E, De Felici M, Novelli G.
    Hum Gene Ther; 2005 Jul 15; 16(7):869-80. PubMed ID: 16000068
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  • 18. Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing.
    Coady TH, Shababi M, Tullis GE, Lorson CL.
    Mol Ther; 2007 Aug 15; 15(8):1471-8. PubMed ID: 17551501
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  • 19. Spinal muscular atrophy: present state.
    Schmalbruch H, Haase G.
    Brain Pathol; 2001 Apr 15; 11(2):231-47. PubMed ID: 11303798
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  • 20. 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
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