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Journal Abstract Search

213 related items for PubMed ID: 7657792

  • 1. 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]

  • 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. 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]

  • 4. [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]

  • 5. 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]

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

  • 8. 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]

  • 9. [Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].
    García-García D, Teijeira-Bautista S, Fernández-Rodríguez JM, Flores-Calvete J, Sánchez-Espíldora P, Fernández-Couto D, Cimas-Hernando I, Teijeiro-Ferreira A, Fernández-Hojas R, Brasa-Fernández Fierros J, Martínez de Alegría A, Escribano-Arias JL, Núñez-Delgado M, Navarro-Fernández Balbuena C.
    Rev Neurol; 1998 Jun; 26(154):905-11. PubMed ID: 9658457
    [Abstract] [Full Text] [Related]

  • 10. Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.
    Yamada H, Tomé FM, Higuchi I, Kawai H, Azibi K, Chaouch M, Roberds SL, Tanaka T, Fujita S, Mitsui T.
    Lab Invest; 1995 Jun; 72(6):715-22. PubMed ID: 7783429
    [Abstract] [Full Text] [Related]

  • 11. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
    Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M.
    Hum Mol Genet; 1995 Jul; 4(7):1163-7. PubMed ID: 8528203
    [Abstract] [Full Text] [Related]

  • 12. Novel mutations in three patients with LGMD2C with phenotypic differences.
    Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC.
    Pediatr Neurol; 2004 Apr; 30(4):291-4. PubMed ID: 15087111
    [Abstract] [Full Text] [Related]

  • 13. [Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].
    Endo T, Kawai H.
    Nihon Rinsho; 1997 Dec; 55(12):3159-64. PubMed ID: 9436428
    [Abstract] [Full Text] [Related]

  • 14. [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 Dec; 34(5):486-9. PubMed ID: 12040521
    [Abstract] [Full Text] [Related]

  • 15. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
    Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB.
    Cell; 1994 Aug 26; 78(4):625-33. PubMed ID: 8069911
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 94(2):601-6. PubMed ID: 8040315
    [Abstract] [Full Text] [Related]

  • 17. [Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].
    Matsumura K.
    Nihon Rinsho; 1997 Dec 26; 55(12):3154-8. PubMed ID: 9436427
    [Abstract] [Full Text] [Related]

  • 18. New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.
    Higuchi I, Iwaki H, Kawai H, Endo T, Kunishige M, Fukunaga H, Nakagawa M, Arimura K, Osame M.
    J Neurol Sci; 1997 Dec 09; 153(1):100-5. PubMed ID: 9455986
    [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 09; 11(3):257-65. PubMed ID: 7581448
    [Abstract] [Full Text] [Related]

  • 20. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
    McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM.
    Proc Natl Acad Sci U S A; 1994 Oct 11; 91(21):9690-4. PubMed ID: 7937874
    [Abstract] [Full Text] [Related]

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