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Journal Abstract Search

134 related items for PubMed ID: 9748045

  • 1. Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease.
    Vajsar J, Balslev T, Ray PN, Siegel-Bartelt J, Jay V.
    Neurology; 1998 Sep; 51(3):873-5. PubMed ID: 9748045
    [Abstract] [Full Text] [Related]

  • 2. Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease.
    Jong YJ, Chang JG, Wu JR.
    Neurology; 1998 Sep; 51(3):878-9. PubMed ID: 9748047
    [Abstract] [Full Text] [Related]

  • 3. Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.
    Yiu EM, Ravat S, Ryan MM, Shield LK, Smith LJ, Kornberg AJ.
    Muscle Nerve; 2008 Jul; 38(1):930-2. PubMed ID: 18508340
    [Abstract] [Full Text] [Related]

  • 4. [Type I spinal atrophy (Werdnig-Hoffman disease). Case report].
    Collado-Ortiz MA, Shkurovich-Bialik P, González-De Leo S, Arch-Tirado E.
    Cir Cir; 2007 Jul; 75(2):119-22. PubMed ID: 17511908
    [Abstract] [Full Text] [Related]

  • 5. Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis.
    Migita M, Migita M, Uchikoba Y, Orimo H, Shimada T, Shimada T, Matsumoto T, Hayakawa J, Fujino O, Saitoh M, Fukunaga Y.
    J Nippon Med Sch; 2003 Feb; 70(1):45-8. PubMed ID: 12646976
    [Abstract] [Full Text] [Related]

  • 6. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
    Parsons DW, McAndrew PE, Allinson PS, Parker WD, Burghes AH, Prior TW.
    J Med Genet; 1998 Aug; 35(8):674-6. PubMed ID: 9719377
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes.
    Stipoljev F, Sertić J, Latin V, Rukavina-Stavljenić A, Kurjak A.
    Croat Med J; 1999 Sep; 40(3):433-7. PubMed ID: 10411975
    [Abstract] [Full Text] [Related]

  • 8. Spinal muscular atrophy with congenital fractures: postmortem analysis.
    Van Toorn R, Davies J, Wilmshurst JM.
    J Child Neurol; 2002 Sep; 17(9):721-3. PubMed ID: 12503655
    [Abstract] [Full Text] [Related]

  • 9. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III.
    Jablonka S, Schrank B, Kralewski M, Rossoll W, Sendtner M.
    Hum Mol Genet; 2000 Feb 12; 9(3):341-6. PubMed ID: 10655542
    [Abstract] [Full Text] [Related]

  • 10. Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.
    Echenne B, Rivier F, Roubertie A, Carson NL.
    J Child Neurol; 2004 Mar 12; 19(3):212-3. PubMed ID: 15119481
    [Abstract] [Full Text] [Related]

  • 11. Spectrum of floppy children in Indian scenario.
    Dua T, Das M, Kabra M, Bhatia M, Sarkar C, Arora S, Sharma MC, Kalra V.
    Indian Pediatr; 2001 Nov 12; 38(11):1236-43. PubMed ID: 11721063
    [Abstract] [Full Text] [Related]

  • 12. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
    Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J.
    J Clin Invest; 1996 Sep 01; 98(5):1130-2. PubMed ID: 8787675
    [Abstract] [Full Text] [Related]

  • 13. Spinal muscular atrophy variant with congenital fractures.
    Kelly TE, Amoroso K, Ferre M, Blanco J, Allinson P, Prior TW.
    Am J Med Genet; 1999 Nov 05; 87(1):65-8. PubMed ID: 10528250
    [Abstract] [Full Text] [Related]

  • 14. Transient cytoplasmic bodies in muscle of three infants with Werdnig-Hoffmann disease.
    Buchino JJ, Bove KE, Iannaccone ST.
    Pediatr Pathol; 1990 Nov 05; 10(4):563-73. PubMed ID: 2164661
    [Abstract] [Full Text] [Related]

  • 15. Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria.
    Kremensky I, Jankova S, Bochukova E, Uzunova M, Litvinenko I, Jordanova A.
    J Inherit Metab Dis; 1999 May 05; 22(3):322-6. PubMed ID: 10384397
    [No Abstract] [Full Text] [Related]

  • 16. Molecular diagnosis of spinal muscular atrophy.
    Stewart H, Wallace A, McGaughran J, Mountford R, Kingston H.
    Arch Dis Child; 1998 Jun 05; 78(6):531-5. PubMed ID: 9713008
    [Abstract] [Full Text] [Related]

  • 17. Prenatal prediction of spinal muscular atrophy by SMN deletion analysis.
    Dhamcharee V, Mutirangura A, Tannirandom Y, Jongpiputvanich S, Romyanan O.
    Southeast Asian J Trop Med Public Health; 1999 Jun 05; 30 Suppl 2():186-7. PubMed ID: 11400766
    [Abstract] [Full Text] [Related]

  • 18. Severe spinal muscular atrophy variant associated with congenital bone fractures.
    Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M.
    J Child Neurol; 2002 Sep 05; 17(9):718-21. PubMed ID: 12503654
    [Abstract] [Full Text] [Related]

  • 19. Descriptive epidemiology of spinal muscular atrophy type I in Estonia.
    Vaidla E, Talvik I, Kulla A, Kahre T, Hamarik M, Napa A, Metsvaht T, Piirsoo A, Talvik T.
    Neuroepidemiology; 2006 Sep 05; 27(3):164-8. PubMed ID: 17035693
    [Abstract] [Full Text] [Related]

  • 20. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
    Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J.
    J Med Genet; 1996 Apr 05; 33(4):281-3. PubMed ID: 8730281
    [Abstract] [Full Text] [Related]

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