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Journal Abstract Search

122 related items for PubMed ID: 8535454

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  • 2. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Shanske S, Nonaka I, DiMauro S.
    Muscle Nerve Suppl; 1995; 3():S23-7. PubMed ID: 7603523
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  • 5. A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.
    Bruno C, Tamburino L, Kawashima N, Andreu AL, Shanske S, Hadjigeorgiou GM, Kawashima A, DiMauro S.
    Neuromuscul Disord; 1999 Jan; 9(1):34-7. PubMed ID: 10063833
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  • 6. Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.
    Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y.
    Clin Chim Acta; 1995 Apr 30; 236(1):81-6. PubMed ID: 7664468
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  • 7. Diagnosis of McArdle's disease by molecular genetic analysis of blood.
    el-Schahawi M, Tsujino S, Shanske S, DiMauro S.
    Neurology; 1996 Aug 30; 47(2):579-80. PubMed ID: 8757044
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  • 8. A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
    Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S.
    Neuromuscul Disord; 1999 May 30; 9(3):171-3. PubMed ID: 10382911
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  • 9. A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Rubio JC, Martín MA, Campos Y, Cabello A, Arenas J.
    Neuromuscul Disord; 2000 Feb 30; 10(2):138-40. PubMed ID: 10714589
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  • 11. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Shanske S, DiMauro S.
    N Engl J Med; 1993 Jul 22; 329(4):241-5. PubMed ID: 8316268
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  • 12. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Martín MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J.
    Neuromuscul Disord; 2000 Aug 22; 10(6):447-9. PubMed ID: 10899452
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  • 15. Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.
    Tsujino S, Shanske S, Valberg SJ, Cardinet GH, Smith BP, DiMauro S.
    Neuromuscul Disord; 1996 Jan 22; 6(1):19-26. PubMed ID: 8845714
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  • 18. McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
    Rubio JC, Martín MA, García A, Campos Y, Cabello A, Culebras JM, Arenas J.
    Neuromuscul Disord; 1999 May 22; 9(3):174-5. PubMed ID: 10382912
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  • 19. Peripheral nerve and vasculature involvement in myophosphorylase deficiency (McArdle's disease).
    Byard RW, Lach B, Preston DN.
    Pathology; 1991 Jan 22; 23(1):62-5. PubMed ID: 2062570
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