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Journal Abstract Search

130 related items for PubMed ID: 9463330

  • 21. Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients.
    Savas S, Gokgoz N, Kayserili H, Ozkinay F, Yuksel-Apak M, Kirdar B.
    Hum Hered; 2000; 50(3):162-5. PubMed ID: 10686493
    [Abstract] [Full Text] [Related]

  • 22. Molecular and cellular basis of spinal muscular atrophy.
    Jablonka S, Sendtner M.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2003 Sep; 4(3):144-9. PubMed ID: 13129800
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. Gene conversion events in adult-onset spinal muscular atrophy.
    Mazzei R, Gambardella A, Conforti FL, Magariello A, Patitucci A, Gabriele AL, Sprovieri T, Labate A, Valentino P, Bono F, Bonavita S, Zappia M, Muglia M, Quattrone A.
    Acta Neurol Scand; 2004 Feb 30; 109(2):151-4. PubMed ID: 14705979
    [Abstract] [Full Text] [Related]

  • 25. Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.
    Haider MZ, Moosa A, Dalal H, Habib Y, Reynold L.
    J Biomed Sci; 2001 Feb 30; 8(2):191-6. PubMed ID: 11287750
    [Abstract] [Full Text] [Related]

  • 26. Other forms of survival motor neuron protein and spinal muscular atrophy: an opinion.
    Burghes HM.
    Neuromuscul Disord; 2008 Jan 30; 18(1):82-3. PubMed ID: 18365339
    [No Abstract] [Full Text] [Related]

  • 27. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
    Sutomo R, Akutsu T, Takeshima Y, Nishio H, Sadewa AH, Harada Y, Matsuo M.
    Am J Med Genet; 2002 Nov 22; 113(2):225-6. PubMed ID: 12407717
    [No Abstract] [Full Text] [Related]

  • 28. Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.
    Kesari A, Misra UK, Kalita J, Mishra VN, Pradhan S, Patil SJ, Phadke SR, Mittal B.
    J Neurol; 2005 Jun 22; 252(6):667-71. PubMed ID: 15772743
    [Abstract] [Full Text] [Related]

  • 29. Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making.
    Zeesman S, Whelan DT, Carson N, McGowan-Jordan J, Stockley TL, Ray PN, Prior TW.
    Am J Med Genet; 2002 Jan 22; 107(3):247-9. PubMed ID: 11807908
    [No Abstract] [Full Text] [Related]

  • 30. Histologic and transcriptional assessment of a mild SMA model.
    Balabanian S, Gendron NH, MacKenzie AE.
    Neurol Res; 2007 Jul 22; 29(5):413-24. PubMed ID: 17535551
    [Abstract] [Full Text] [Related]

  • 31. Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.
    Wang CH, Papendick BD, Bruinsma P, Day JK.
    Neurogenetics; 1998 Aug 22; 1(4):273-6. PubMed ID: 10732802
    [Abstract] [Full Text] [Related]

  • 32. SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.
    Simard LR, Rochette C, Semionov A, Morgan K, Vanasse M.
    Am J Med Genet; 1997 Oct 03; 72(1):51-8. PubMed ID: 9295075
    [Abstract] [Full Text] [Related]

  • 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 03; 16(3):265-9. PubMed ID: 9207792
    [Abstract] [Full Text] [Related]

  • 34. [Diagnostic difficulties in spinal muscular atrophy].
    Araújo AP, Ramos VG, Cabello PH.
    Arq Neuropsiquiatr; 2005 Mar 03; 63(1):145-9. PubMed ID: 15830081
    [Abstract] [Full Text] [Related]

  • 35. Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.
    Al Rajeh S, Majumdar R, Awada A, Adeyokunnu A, Al Jumah M, Al Bunyan M, Snellen A.
    J Neurol Sci; 1998 Jun 11; 158(1):43-6. PubMed ID: 9667776
    [Abstract] [Full Text] [Related]

  • 36. Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.
    Beattie CE, Carrel TL, McWhorter ML.
    J Child Neurol; 2007 Aug 11; 22(8):995-1003. PubMed ID: 17761655
    [Abstract] [Full Text] [Related]

  • 37. Mouse models for spinal muscular atrophy.
    MacKenzie A.
    Pediatr Res; 2000 Jul 11; 48(1):2. PubMed ID: 10879791
    [No Abstract] [Full Text] [Related]

  • 38. Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients.
    Zat'ková A, Hahnen E, Wirth B, Kádasi L.
    Hum Hered; 2000 Jul 11; 50(3):171-4. PubMed ID: 10686495
    [Abstract] [Full Text] [Related]

  • 39. Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
    Al-Jumah M, Majumdar R, Al-Rajeh S, Awada A, Chaves-Carbello E, Salih M, Al-Shahwan S, Al-Subiey K, Al-Uthaim S.
    Saudi Med J; 2003 Oct 11; 24(10):1052-4. PubMed ID: 14578966
    [Abstract] [Full Text] [Related]

  • 40. Deletion analysis of Bulgarian SMA families.
    Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I.
    Hum Mutat; 1998 Oct 11; 12(1):33-8. PubMed ID: 9633817
    [Abstract] [Full Text] [Related]

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