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Journal Abstract Search

350 related items for PubMed ID: 13129800

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  • 2. 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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  • 3. Therapeutics development for spinal muscular atrophy.
    Sumner CJ.
    NeuroRx; 2006 Apr; 3(2):235-45. PubMed ID: 16554261
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  • 5. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B.
    Hum Mutat; 2000 Apr; 15(3):228-37. PubMed ID: 10679938
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  • 6. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
    Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH.
    J Cell Biol; 2003 Jan 06; 160(1):41-52. PubMed ID: 12515823
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  • 9. 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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  • 15. 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 27; 70(2):358-68. PubMed ID: 11791208
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  • 16. Spinal muscular atrophy: present state.
    Schmalbruch H, Haase G.
    Brain Pathol; 2001 Apr 27; 11(2):231-47. PubMed ID: 11303798
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  • 18. 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 27; 249(9):1211-9. PubMed ID: 12242541
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