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4. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Bartram C, Edwards RH, Clague J, Beynon RJ. Hum Mol Genet; 1993 Aug 14; 2(8):1291-3. PubMed ID: 8401511 [Abstract] [Full Text] [Related]
5. McArdle's & Hers' diseases: glycogen phosphorylase transcriptional expression in human tissues. Gorin FA, Mullinax RL, Ignacio PC, Neve RL, Kurnit DM. J Neurogenet; 1987 Dec 14; 4(6):293-308. PubMed ID: 3509980 [Abstract] [Full Text] [Related]
6. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Tsujino S, Shanske S, Nonaka I, DiMauro S. Muscle Nerve Suppl; 1995 Dec 14; 3():S23-7. PubMed ID: 7603523 [Abstract] [Full Text] [Related]
8. Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro. Pari G, Crerar MM, Nalbantoglu J, Shoubridge E, Jani A, Tsujino S, Shanske S, DiMauro S, Howell JM, Karpati G. Neurology; 1999 Oct 12; 53(6):1352-4. PubMed ID: 10522901 [Abstract] [Full Text] [Related]
9. Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. Martinuzzi A, Vergani L, Carrozzo R, Fanin M, Bartoloni L, Angelini C, Askanas V, Engel WK. J Clin Invest; 1993 Oct 12; 92(4):1774-80. PubMed ID: 8408630 [Abstract] [Full Text] [Related]
10. McArdle's disease: molecular genetics and metabolic consequences of the phenotype. Beynon RJ, Bartram C, Hopkins P, Toescu V, Gibson H, Phoenix J, Edwards RH. Muscle Nerve Suppl; 1995 Oct 12; 3():S18-22. PubMed ID: 7603521 [Abstract] [Full Text] [Related]
11. Adenovirus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V. Baqué S, Newgard CB, Gerard RD, Guinovart JJ, Gómez-Foix AM. Biochem J; 1994 Dec 15; 304 ( Pt 3)(Pt 3):1009-14. PubMed ID: 7818463 [Abstract] [Full Text] [Related]
12. McArdle's disease: biochemical and molecular genetic studies. Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R, DiMauro S. Ann Neurol; 1988 Dec 15; 24(6):774-81. PubMed ID: 3207360 [Abstract] [Full Text] [Related]