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Journal Abstract Search
150 related items for PubMed ID: 1067141
1. Myophosphorylase deficiency (McArdle's disease): report of a family. Mahmud MZ, Howell RR, Stevenson RE, Gilroy J. Can J Neurol Sci; 1976 Aug; 3(3):175-9. PubMed ID: 1067141 [Abstract] [Full Text] [Related]
2. [McArdle's disease: a case report]. Levy JA, Gagioti SM, Cavalieri MJ, Pereira JR. Arq Neuropsiquiatr; 1980 Dec; 38(4):411-4. PubMed ID: 6937160 [Abstract] [Full Text] [Related]
3. [McArdle's disease]. Löfberg M, Junes M, Seppänen H, Rautakorpi I, Paetau A, Härkönen M, Somer H. Duodecim; 1993 Dec; 109(19):1676-82. PubMed ID: 7736987 [No Abstract] [Full Text] [Related]
6. A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease. Hadjigeorgiou GM, Papadimitriou A, Musumeci O, Paterakis K, Flabouriari K, Shanske S, DiMauro S. J Neurol Sci; 2002 Feb 15; 194(1):83-6. PubMed ID: 11809171 [Abstract] [Full Text] [Related]
7. Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family. Manfredi G, Silvestri G, Servidei S, Ricci E, Mirabella M, Bertini E, Papacci M, Rana M, Tonali P. J Neurol Sci; 1993 Mar 15; 115(1):91-4. PubMed ID: 8468596 [Abstract] [Full Text] [Related]
9. [McArdle's disease. Apropos of a case]. Yuste JR, Beloqui O, De la Peña A, Rodríguez-Rosado R, Monreal JI, Prósper F, Prieto J. Rev Med Univ Navarra; 1998 Aug 15; 42(1):29-33. PubMed ID: 10420954 [Abstract] [Full Text] [Related]
17. Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease. Daegelen D, Munnich A, Levin MJ, Girault A, Goasguen J, Kahn A, Dreyfus JC. Ann Hum Genet; 1983 May 15; 47(2):107-15. PubMed ID: 6576726 [Abstract] [Full Text] [Related]
18. 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 15; 79(1):275-81. PubMed ID: 3466902 [Abstract] [Full Text] [Related]