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Journal Abstract Search

216 related items for PubMed ID: 7668821

  • 1. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
    Ljunggren A, Duggan D, McNally E, Boylan KB, Gama CH, Kunkel LM, Hoffman EP.
    Ann Neurol; 1995 Sep; 38(3):367-72. PubMed ID: 7668821
    [Abstract] [Full Text] [Related]

  • 2. [Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].
    Endo T, Akaike M, Kawai H, Matsumura K, Saito S.
    Rinsho Shinkeigaku; 1996 Mar; 36(3):415-22. PubMed ID: 8741343
    [Abstract] [Full Text] [Related]

  • 3. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
    Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S.
    J Clin Invest; 1995 Sep; 96(3):1202-7. PubMed ID: 7657792
    [Abstract] [Full Text] [Related]

  • 4. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
    Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrié A, Récan D, Chaouch M, Reghis A.
    Nat Genet; 1995 Jun; 10(2):243-5. PubMed ID: 7663524
    [Abstract] [Full Text] [Related]

  • 5. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
    Romero NB, Tomé FM, Leturcq F, el Kerch FE, Azibi K, Bachner L, Anderson RD, Roberds SL, Campbell KP, Fardeau M.
    C R Acad Sci III; 1994 Jan; 317(1):70-6. PubMed ID: 7987694
    [Abstract] [Full Text] [Related]

  • 6. Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects.
    Handa V, Mital A, Gupta M, Goyle S.
    Neurol India; 2001 Mar; 49(1):19-24. PubMed ID: 11303236
    [Abstract] [Full Text] [Related]

  • 7. [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].
    Hayashi YK, Arahata K.
    Nihon Rinsho; 1997 Dec; 55(12):3165-8. PubMed ID: 9436429
    [Abstract] [Full Text] [Related]

  • 8. Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.
    Higuchi I, Yamada H, Fukunaga H, Iwaki H, Okubo R, Nakagawa M, Osame M, Roberds SL, Shimizu T, Campbell KP.
    J Clin Invest; 1994 Aug; 94(2):601-6. PubMed ID: 8040315
    [Abstract] [Full Text] [Related]

  • 9. [Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy].
    Akaike M, Kawai H.
    Rinsho Byori; 1997 Feb; 45(2):136-40. PubMed ID: 9120997
    [Abstract] [Full Text] [Related]

  • 10. [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].
    Eirís-Puñal J, Pintos-Martínez E, Lasa A, Gallano P, Castro-Gago M.
    Rev Neurol; 1997 Feb; 34(5):486-9. PubMed ID: 12040521
    [Abstract] [Full Text] [Related]

  • 11. Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy.
    McNally EM, Bönnemann CG, Kunkel LM, Bhattacharya SK.
    N Engl J Med; 1996 Jun 13; 334(24):1610-1. PubMed ID: 8628353
    [No Abstract] [Full Text] [Related]

  • 12. Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy.
    Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP.
    N Engl J Med; 1996 Feb 08; 334(6):362-6. PubMed ID: 8538707
    [No Abstract] [Full Text] [Related]

  • 13. [Severe childhood autosomal recessive muscular dystrophy].
    Matsumura K, Shimizu T.
    Rinsho Shinkeigaku; 1995 Dec 08; 35(12):1422-4. PubMed ID: 8752417
    [Abstract] [Full Text] [Related]

  • 14. alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.
    Duggan DJ, Fanin M, Pegoraro E, Angelini C, Hoffman EP.
    J Neurol Sci; 1996 Sep 01; 140(1-2):30-9. PubMed ID: 8866424
    [Abstract] [Full Text] [Related]

  • 15. [Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].
    Urtasun M, Poza JJ, Gallano P, Lasa A, Sáenz A, Cobo AM, Leturcq F, López de Munain A, García-Bragado F.
    Med Clin (Barc); 1998 Apr 25; 110(14):538-42. PubMed ID: 9646269
    [Abstract] [Full Text] [Related]

  • 16. [Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].
    Matsumura K.
    Nihon Rinsho; 1997 Dec 25; 55(12):3154-8. PubMed ID: 9436427
    [Abstract] [Full Text] [Related]

  • 17. [Complete deficiency of adhalin (50 kDa DAG) in skeletal muscle of malignant limb-girdle muscular dystrophy].
    Kawai H, Inui T, Mitsui T, Campbell KP, Shimizu T, Matsumura K.
    Rinsho Shinkeigaku; 1995 Feb 25; 35(2):184-9. PubMed ID: 7781237
    [Abstract] [Full Text] [Related]

  • 18. Sarcoglycans in muscular dystrophy.
    Hack AA, Groh ME, McNally EM.
    Microsc Res Tech; 1995 Feb 25; 48(3-4):167-80. PubMed ID: 10679964
    [Abstract] [Full Text] [Related]

  • 19. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
    Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C.
    Nat Genet; 1995 Nov 25; 11(3):257-65. PubMed ID: 7581448
    [Abstract] [Full Text] [Related]

  • 20. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
    Matsumura K, Tomé FM, Collin H, Azibi K, Chaouch M, Kaplan JC, Fardeau M, Campbell KP.
    Nature; 1992 Sep 24; 359(6393):320-2. PubMed ID: 1406935
    [Abstract] [Full Text] [Related]

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