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Journal Abstract Search

658 related items for PubMed ID: 16508748

  • 1. 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; 119(4):422-8. PubMed ID: 16508748
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  • 2. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
    Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L.
    Neuromuscul Disord; 2007 Jun; 17(6):476-81. PubMed ID: 17475491
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  • 3. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
    Tran VK, Sasongko TH, Hong DD, Hoan NT, Dung VC, Lee MJ, Gunadi, Takeshima Y, Matsuo M, Nishio H.
    Pediatr Int; 2008 Jun; 50(3):346-51. PubMed ID: 18533950
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  • 4. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
    Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B.
    Am J Hum Genet; 2002 Feb; 70(2):358-68. PubMed ID: 11791208
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  • 5. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.
    Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H.
    J Neurol; 2002 Sep; 249(9):1211-9. PubMed ID: 12242541
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  • 6. 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; 25(1):64-71. PubMed ID: 15580564
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  • 9. Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.
    Ogino S, Gao S, Leonard DG, Paessler M, Wilson RB.
    Eur J Hum Genet; 2003 Mar; 11(3):275-7. PubMed ID: 12673282
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  • 10. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells.
    Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH.
    Ann Neurol; 2005 Aug; 58(2):194-202. PubMed ID: 16049920
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  • 14. Unaffected patients with a homozygous absence of the SMN1 gene.
    Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.
    Eur J Hum Genet; 2008 Aug; 16(8):930-4. PubMed ID: 18337729
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  • 16. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin ZA, Nishio H, Zilfalil BA.
    Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
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  • 17. Spinal muscular atrophy: from gene to therapy.
    Wirth B, Brichta L, Hahnen E.
    Semin Pediatr Neurol; 2006 Jun; 13(2):121-31. PubMed ID: 17027862
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  • 20. Therapeutics development for spinal muscular atrophy.
    Sumner CJ.
    NeuroRx; 2006 Apr; 3(2):235-45. PubMed ID: 16554261
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