These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 8468596)

  • 1. 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; 115(1):91-4. PubMed ID: 8468596
    [TBL] [Abstract][Full Text] [Related]  

  • 2. McArdle's disease: two clinical expressions in the same pedigree.
    Papadimitriou A; Manta P; Divari R; Karabetsos A; Papadimitriou E; Bresolin N
    J Neurol; 1990 Jul; 237(4):267-70. PubMed ID: 2391551
    [TBL] [Abstract][Full Text] [Related]  

  • 3. McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote.
    Schmidt B; Servidei S; Gabbai AA; Silva AC; de Sousa Bulle de Oliveira A; DiMauro S
    Neurology; 1987 Sep; 37(9):1558-61. PubMed ID: 3476861
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
    Paradas C; Fernandez-Cadenas I; Gallardo E; Lligé D; Arenas J; Illa I; Andreu AL
    Neurosci Lett; 2005 Dec; 391(1-2):28-31. PubMed ID: 16154688
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Absence of biochemical heterogeneity in McArdle's disease. A high resolution SDS-polyacrylamide gel electrophoresis study.
    Mantle D; Lauffart B; Atack J; Lane RJ
    J Neurol Sci; 1987 Mar; 78(1):63-70. PubMed ID: 3471865
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnosis of McArdle's disease by molecular genetic analysis of blood.
    el-Schahawi M; Tsujino S; Shanske S; DiMauro S
    Neurology; 1996 Aug; 47(2):579-80. PubMed ID: 8757044
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Peripheral nerve and vasculature involvement in myophosphorylase deficiency (McArdle's disease).
    Byard RW; Lach B; Preston DN
    Pathology; 1991 Jan; 23(1):62-5. PubMed ID: 2062570
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular characterization of McArdle's disease in two large Finnish families.
    Bruno C; Löfberg M; Tamburino L; Jänkälä H; Hadjigeorgiou GM; Andreu AL; Shanske S; Somer H; DiMauro S
    J Neurol Sci; 1999 Jun; 165(2):121-5. PubMed ID: 10450796
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
    Hadjigeorgiou GM; Sadeh M; Musumeci O; Dabby R; De Girolami L; Naini A; Papadimitriou A; Shanske S; DiMauro S
    Neuromuscul Disord; 2002 Nov; 12(9):824-7. PubMed ID: 12398832
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 47(2):107-15. PubMed ID: 6576726
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
    Tsujino S; Shanske S; DiMauro S
    N Engl J Med; 1993 Jul; 329(4):241-5. PubMed ID: 8316268
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 194(1):83-6. PubMed ID: 11809171
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [McArdle's disease in adults: clinical and genetic study].
    Olmos JM; Zarrabeitia MT; Valero MC; Figols J; Matorras P; Riancho JA
    Med Clin (Barc); 1997 Nov; 109(19):753-5. PubMed ID: 9470186
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 3():S18-22. PubMed ID: 7603521
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [McArdle's disease].
    Löfberg M; Junes M; Seppänen H; Rautakorpi I; Paetau A; Härkönen M; Somer H
    Duodecim; 1993; 109(19):1676-82. PubMed ID: 7736987
    [No Abstract]   [Full Text] [Related]  

  • 19. Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle's disease: expression and re-expression of glycogen phosphorylase.
    Howell JM; Walker KR; Davies L; Dunton E; Everaardt A; Laing N; Karpati G
    Neuromuscul Disord; 2008 Mar; 18(3):248-58. PubMed ID: 18343113
    [TBL] [Abstract][Full Text] [Related]  

  • 20. McArdle's disease-muscle glycogen phosphorylase deficiency.
    Bartram C; Edwards RH; Beynon RJ
    Biochim Biophys Acta; 1995 Aug; 1272(1):1-13. PubMed ID: 7662715
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.