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369 related items for PubMed ID: 17175684

  • 21. 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; 22(2):136-43. PubMed ID: 12872254
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  • 22. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
    Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.
    Neurology; 2005 Nov 22; 65(10):1631-5. PubMed ID: 16301493
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  • 23. 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 Nov 22; 15(3):228-37. PubMed ID: 10679938
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  • 24. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
    Chen WJ, Wu ZY, Lin MT, Su JF, Lin Y, Murong SX, Wang N.
    Arch Neurol; 2007 Feb 22; 64(2):225-31. PubMed ID: 17296838
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  • 25. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S, Wilson RB.
    Hum Genet; 2002 Dec 22; 111(6):477-500. PubMed ID: 12436240
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  • 26. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.
    Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL.
    Hum Mol Genet; 2005 May 01; 14(9):1199-210. PubMed ID: 15790598
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  • 27. Deletion analysis of Bulgarian SMA families.
    Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I.
    Hum Mutat; 1998 May 01; 12(1):33-8. PubMed ID: 9633817
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  • 28. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
    Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M.
    Neuromuscul Disord; 2006 Dec 01; 16(12):830-8. PubMed ID: 17049859
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  • 31. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients.
    Watihayati MS, Zabidi-Hussin AM, Tang TH, Matsuo M, Nishio H, Zilfalil BA.
    Pediatr Int; 2007 Feb 01; 49(1):11-4. PubMed ID: 17250498
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  • 32. [Quantitative analysis of SMN gene copies in spinal muscular atrophy].
    Ding HX, Yang XS, Xiao B, Wu ZG, Zhang LF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr 01; 21(2):153-5. PubMed ID: 15079799
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  • 33. 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 01; 50(3):346-51. PubMed ID: 18533950
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  • 34. Population screening and cascade testing for carriers of SMA.
    Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D.
    Eur J Hum Genet; 2007 Jul 01; 15(7):759-66. PubMed ID: 17392705
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  • 35. Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.
    Somerville MJ, Hunter AG, Aubry HL, Korneluk RG, MacKenzie AE, Surh LC.
    Am J Med Genet; 1997 Mar 17; 69(2):159-65. PubMed ID: 9056553
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  • 36. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India.
    Kesari A, Idris MM, Chandak GR, Mittal B.
    Exp Mol Med; 2005 Jun 30; 37(3):147-54. PubMed ID: 16000867
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  • 39. 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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  • 40. [Molecular basis of spinal muscular atrophy: th SMN gene].
    Tizzano E, Baiget M.
    Neurologia; 2000 Nov 15; 15(9):393-400. PubMed ID: 11195146
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