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Journal Abstract Search

466 related items for PubMed ID: 18298318

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  • 23. [Application of real-time PCR analysis of the SMN1gene in the carrier testing of spinal muscular atrophy].
    Lu LP, Ma HW, Jiang J, Wang T, Hu B.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct; 9(5):457-60. PubMed ID: 17937858
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  • 25. [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].
    Jedrzejowska M, Madej-Pilarczyk A, Zimowski J, Hausmanowa-Petrusewicz I.
    Neurol Neurochir Pol; 2006 Oct; 40(5):446-9. PubMed ID: 17103359
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  • 28. Spinal muscular atrophy: molecular genetics and diagnostics.
    Ogino S, Wilson RB.
    Expert Rev Mol Diagn; 2004 Jan; 4(1):15-29. PubMed ID: 14711346
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  • 31. 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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  • 33. 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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  • 34. Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
    Moutou C, Machev N, Gardes N, Viville S.
    Prenat Diagn; 2006 Nov 27; 26(11):1037-41. PubMed ID: 16941715
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  • 36. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
    Cuscó I, Barceló MJ, Baiget M, Tizzano EF.
    Hum Mutat; 2002 Dec 27; 20(6):452-9. PubMed ID: 12442269
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  • 37. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification.
    Tomaszewicz K, Kang P, Wu BL.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb 18; 37(1):55-7. PubMed ID: 15719043
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  • 38. Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
    Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R.
    Neuromuscul Disord; 2015 Feb 18; 25(2):169-71. PubMed ID: 25454169
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  • 39. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.
    Gérard B, Ginet N, Matthijs G, Evrard P, Baumann C, Da Silva F, Gérard-Blanluet M, Mayer M, Grandchamp B, Elion J.
    Hum Mutat; 2000 Sep 18; 16(3):253-63. PubMed ID: 10980532
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