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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

173 related items for PubMed ID: 9455986

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  • 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
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  • 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
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  • 6. 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
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  • 7. A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.
    van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA.
    Neuromuscul Disord; 1998 Jun 01; 8(5):305-8. PubMed ID: 9673983
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  • 9. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
    Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F.
    Neuromuscul Disord; 2003 Dec 01; 13(10):779-87. PubMed ID: 14678800
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  • 10. [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 01; 36(3):415-22. PubMed ID: 8741343
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  • 11. [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].
    Hayashi YK, Arahata K.
    Nihon Rinsho; 1997 Dec 01; 55(12):3165-8. PubMed ID: 9436429
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  • 13. [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 01; 26(154):905-11. PubMed ID: 9658457
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  • 16. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
    Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP.
    Hum Mol Genet; 2000 Aug 12; 9(13):2019-27. PubMed ID: 10942431
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  • 17. [Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].
    Endo T, Kawai H.
    Nihon Rinsho; 1997 Dec 12; 55(12):3159-64. PubMed ID: 9436428
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  • 18. 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 12; 49(1):19-24. PubMed ID: 11303236
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  • 20. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
    Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.
    Hum Mol Genet; 1996 Dec 12; 5(12):1953-61. PubMed ID: 8968749
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