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Journal Abstract Search

398 related items for PubMed ID: 17932457

  • 21. [Molecular basis of spinal muscular atrophy: th SMN gene].
    Tizzano E, Baiget M.
    Neurologia; 2000 Nov; 15(9):393-400. PubMed ID: 11195146
    [Abstract] [Full Text] [Related]

  • 22. [Detection of SMN gene deletions in spinal muscular atrophy].
    Yang T, Yuan L, Liu T, Zhou W, Wu H, Zhao S, Shun L, Huo L, Ma S, Lin Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1998 Apr 10; 15(2):95-7. PubMed ID: 9531649
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  • 23. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
    Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I.
    Acta Biochim Pol; 2009 Apr 10; 56(1):103-8. PubMed ID: 19287802
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  • 24. 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 10; 17(6):476-81. PubMed ID: 17475491
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  • 25. [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].
    Spiegel R, Hagmann A, Boltshauser E, Moser H.
    Schweiz Med Wochenschr; 1996 May 25; 126(21):907-14. PubMed ID: 8693311
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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 25; 16(12):830-8. PubMed ID: 17049859
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  • 30. SMA type 2 unrelated to chromosome 5q13.
    Nevo Y, Kramer U, Legum C, Shomrat R, Fatal A, Soffer D, Harel S, Shapira Y.
    Am J Med Genet; 1998 Jan 13; 75(2):193-5. PubMed ID: 9450884
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  • 32. SMN oligomerization defect correlates with spinal muscular atrophy severity.
    Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ.
    Nat Genet; 1998 May 13; 19(1):63-6. PubMed ID: 9590291
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  • 33. Correlation between severity and SMN protein level in spinal muscular atrophy.
    Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J.
    Nat Genet; 1997 Jul 13; 16(3):265-9. PubMed ID: 9207792
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  • 37. 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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  • 39. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
    Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE.
    Genomics; 1998 Feb 15; 48(1):121-7. PubMed ID: 9503025
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  • 40. 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 15; 64(2):225-31. PubMed ID: 17296838
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