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Journal Abstract Search

127 related items for PubMed ID: 12037441

  • 21. Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
    Bruno C, Lanzillo R, Biedi C, Iadicicco L, Minetti C, Santoro L.
    Neuromuscul Disord; 2002 Jun; 12(5):498-500. PubMed ID: 12031624
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  • 22. A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.
    Iacono S, Lupica A, Di Stefano V, Borgione E, Brighina F.
    Acta Myol; 2022 Mar; 41(1):37-40. PubMed ID: 35465342
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  • 25. McArdle's disease heterozygotes. Metabolic adaptation assessed using 31P-nuclear magnetic resonance.
    Bogusky RT, Taylor RG, Anderson LJ, Angelos KL, Lieberman JS, Walsh DA.
    J Clin Invest; 1986 Jun; 77(6):1881-7. PubMed ID: 3458722
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  • 27. Muscle pain in myophosphorylase deficiency (McArdle's disease): the role of gender, genotype, and pain-related coping.
    Rommel O, Kley RA, Dekomien G, Epplen JT, Vorgerd M, Hasenbring M.
    Pain; 2006 Oct; 124(3):295-304. PubMed ID: 16793208
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  • 28. [McArdle's disease without typical symptoms].
    Watanabe M, Matsubara E, Amari M, Okamoto K, Hirai S.
    Rinsho Shinkeigaku; 1990 Nov; 30(11):1247-51. PubMed ID: 2085931
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  • 32. Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.
    Stalter J, Gies U, Mathys C, Witt K.
    J Med Case Rep; 2024 Oct 08; 18(1):465. PubMed ID: 39375813
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  • 33. Myophosphorylase deficiency (McArdle's disease): report of a family.
    Mahmud MZ, Howell RR, Stevenson RE, Gilroy J.
    Can J Neurol Sci; 1976 Aug 08; 3(3):175-9. PubMed ID: 1067141
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  • 34. A new mutation in PYGM causing McArdle disease in a Brazilian patient.
    Gomes CP, da Silva AMS, Zanoteli E, Pesquero JB.
    Acta Neurol Belg; 2020 Jun 08; 120(3):705-707. PubMed ID: 31175620
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  • 35. McArdle's disease diagnosed following statin-induced myositis.
    Livingstone C, Al Riyami S, Wilkins P, Ferns GA.
    Ann Clin Biochem; 2004 Jul 08; 41(Pt 4):338-40. PubMed ID: 15298748
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  • 36. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I, Teijeira S, Miranda S, San Millán B, Navarro C.
    Hum Genet; 2008 Oct 08; 124(3):295. PubMed ID: 18846611
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  • 39. Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.
    Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus JC.
    J Clin Invest; 1987 Jan 08; 79(1):275-81. PubMed ID: 3466902
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  • 40. Exercise induced muscle weakness in a young adult: McArdle's disease unusual presentation.
    Kalsoom H, Mukhtar H, Latif RK.
    J Pak Med Assoc; 2023 Dec 08; 73(12):2473-2475. PubMed ID: 38083936
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