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Journal Abstract Search

156 related items for PubMed ID: 1789686

  • 1. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
    Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R.
    Ann Neurol; 1991 Oct; 30(4):605-10. PubMed ID: 1789686
    [Abstract] [Full Text] [Related]

  • 2. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy.
    Arahata K, Beggs AH, Honda H, Ito S, Ishiura S, Tsukahara T, Ishiguro T, Eguchi C, Orimo S, Arikawa E.
    J Neurol Sci; 1991 Feb; 101(2):148-56. PubMed ID: 2033400
    [Abstract] [Full Text] [Related]

  • 3. Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
    Arahata K, Hoffman EP, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H.
    Proc Natl Acad Sci U S A; 1989 Sep; 86(18):7154-8. PubMed ID: 2674948
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic Duchenne muscular dystrophy with C-terminal domain.
    Higuchi I, Fukunaga H, Usuki F, Moritoyo T, Osame M.
    Pediatr Neurol; 1992 Sep; 8(4):310-2. PubMed ID: 1388424
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
    Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP.
    Neurogenetics; 1997 May; 1(1):49-58. PubMed ID: 10735275
    [Abstract] [Full Text] [Related]

  • 6. Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
    Vainzof M, Takata RI, Passos-Bueno MR, Pavanello RC, Zatz M.
    Hum Mol Genet; 1993 Jan; 2(1):39-42. PubMed ID: 8490621
    [Abstract] [Full Text] [Related]

  • 7. Quadriceps myopathy: forme fruste of Becker muscular dystrophy.
    Sunohara N, Arahata K, Hoffman EP, Yamada H, Nishimiya J, Arikawa E, Kaido M, Nonaka I, Sugita H.
    Ann Neurol; 1990 Nov; 28(5):634-9. PubMed ID: 2260849
    [Abstract] [Full Text] [Related]

  • 8. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population.
    Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Arahata K.
    Neurology; 1991 Sep; 41(9):1491-6. PubMed ID: 1842672
    [Abstract] [Full Text] [Related]

  • 9. Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.
    Matsumura K, Burghes AH, Mora M, Tomé FM, Morandi L, Cornello F, Leturcq F, Jeanpierre M, Kaplan JC, Reinert P.
    J Clin Invest; 1994 Jan; 93(1):99-105. PubMed ID: 8282827
    [Abstract] [Full Text] [Related]

  • 10. [Molecular pathology of Duchenne and Becker muscular dystrophy].
    Gilgenkrantz H, Chelly J, Récan D, Chafey P, Kaplan JC.
    C R Seances Soc Biol Fil; 1992 Jan; 186(4):349-53. PubMed ID: 1301222
    [Abstract] [Full Text] [Related]

  • 11. Prevalent cardiac involvement in dystrophin Becker type mutation.
    Siciliano G, Fanin M, Angelini C, Pollina LE, Miorin M, Saad FA, Freda MP, Muratorio A.
    Neuromuscul Disord; 1994 Jul; 4(4):381-6. PubMed ID: 7981595
    [Abstract] [Full Text] [Related]

  • 12. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
    Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM.
    Proc Natl Acad Sci U S A; 1992 Jan 15; 89(2):623-7. PubMed ID: 1731332
    [Abstract] [Full Text] [Related]

  • 13. Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.
    Matsumura K, Tomé FM, Ionasescu V, Ervasti JM, Anderson RD, Romero NB, Simon D, Récan D, Kaplan JC, Fardeau M.
    J Clin Invest; 1993 Aug 15; 92(2):866-71. PubMed ID: 8349821
    [Abstract] [Full Text] [Related]

  • 14. Dystrophin and related proteins.
    Tinsley JM, Blake DJ, Pearce M, Knight AE, Kendrick-Jones J, Davies KE.
    Curr Opin Genet Dev; 1993 Jun 15; 3(3):484-90. PubMed ID: 8353425
    [Abstract] [Full Text] [Related]

  • 15. Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype.
    Takeshima Y, Nishio H, Narita N, Wada H, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M.
    Neurology; 1994 Sep 15; 44(9):1648-51. PubMed ID: 7936290
    [Abstract] [Full Text] [Related]

  • 16. Is dystrophin labelling always discontinuous in Becker muscular dystrophy?
    Slater CR, Nicholson LV.
    J Neurol Sci; 1991 Feb 15; 101(2):187-92. PubMed ID: 2033404
    [Abstract] [Full Text] [Related]

  • 17. Reciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects.
    Mizuno Y, Nonaka I, Hirai S, Ozawa E.
    J Neurol Sci; 1993 Oct 15; 119(1):43-52. PubMed ID: 8246010
    [Abstract] [Full Text] [Related]

  • 18. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.
    Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB.
    Acta Neuropathol; 1990 Oct 15; 80(3):239-50. PubMed ID: 2205076
    [Abstract] [Full Text] [Related]

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