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Journal Abstract Search

216 related items for PubMed ID: 15470363

  • 1.
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  • 2. 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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  • 4. Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
    Gamez J, Also E, Alias L, Corbera-Bellalta M, Barceló MJ, Centeno M, Raguer N, Gratacós M, Baiget M, Tizzano EF.
    Clin Neurol Neurosurg; 2007 Dec; 109(10):844-8. PubMed ID: 17850955
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  • 5. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
    Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN, Chang MC, Yu CL, Hsieh WS, Lin WL, Hsu SM.
    Hum Mutat; 2005 May; 25(5):460-7. PubMed ID: 15832310
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  • 6. 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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  • 7. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
    Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR, French ALS Study Group.
    Neurology; 2006 Oct 10; 67(7):1147-50. PubMed ID: 16931506
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  • 8. Determination of SMN1 and SMN2 copy number using TaqMan technology.
    Anhuf D, Eggermann T, Rudnik-Schöneborn S, Zerres K.
    Hum Mutat; 2003 Jul 10; 22(1):74-8. PubMed ID: 12815596
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  • 9. Genetic risk assessment in carrier testing for spinal muscular atrophy.
    Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB.
    Am J Med Genet; 2002 Jul 15; 110(4):301-7. PubMed ID: 12116201
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  • 10. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
    Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.
    Hum Mutat; 2003 Aug 15; 22(2):136-43. PubMed ID: 12872254
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  • 11. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S, Wilson RB.
    Hum Genet; 2002 Dec 15; 111(6):477-500. PubMed ID: 12436240
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  • 12. 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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  • 13. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
    DiMatteo D, Callahan S, Kmiec EB.
    Exp Cell Res; 2008 Feb 15; 314(4):878-86. PubMed ID: 18078930
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  • 14. Spinal muscular atrophy diagnostics.
    Prior TW.
    J Child Neurol; 2007 Aug 15; 22(8):952-6. PubMed ID: 17761649
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  • 15. 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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  • 17. Best practice guidelines for molecular analysis in spinal muscular atrophy.
    Scheffer H, Cobben JM, Matthijs G, Wirth B.
    Eur J Hum Genet; 2001 Jul 14; 9(7):484-91. PubMed ID: 11464239
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