BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 12031624)

  • 1. 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]  

  • 2. 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]  

  • 3. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
    Martín MA; Rubio JC; Wevers RA; Van Engelen BG; Steenbergen GC; Van Diggelen OP; De Visser M; De Die-Smulders C; Blázquez A; Andreu AL; Arenas J
    Ann Hum Genet; 2004 Jan; 68(Pt 1):17-22. PubMed ID: 14748827
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
    Gámez J; Rubio JC; Martín MA; Fernández-Cadenas I; Garcia-Arumi E; Andreu AL; Arenas J
    Muscle Nerve; 2003 Sep; 28(3):380-2. PubMed ID: 12929201
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
    Gamez J; Fernandez R; Bruno C; Andreu AL; Cervera C; Navarro C; Schwartz S; Dimauro S
    Muscle Nerve; 1999 Aug; 22(8):1136-8. PubMed ID: 10417800
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 10(2):138-40. PubMed ID: 10714589
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.
    Deschauer M; Opalka JR; Lindner A; Zierz S
    Mol Genet Metab; 2001 Dec; 74(4):489-91. PubMed ID: 11749054
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.
    Deschauer M; Hertel K; Zierz S
    Muscle Nerve; 2003 Jan; 27(1):105-7. PubMed ID: 12508303
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular characterization of McArdle's disease in Brazilian patients.
    Gurgel-Giannetti J; Nogales-Gadea G; van der Linden H; Bellard TM; Brasileiro Filho G; Giannetti AV; de Castro Concentino EL; Vainzof M
    Neuromolecular Med; 2013 Sep; 15(3):470-5. PubMed ID: 23653251
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].
    Fernandez-Cadenas I; Nogales-Gadea G; Llige D; Rubio JC; Montaner J; Arenas J; Raspall-Chaure M; Roig-Quilis M; Andreu AL
    Rev Neurol; 2007 Sep 1-15; 45(5):280-3. PubMed ID: 17876739
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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; 9(3):171-3. PubMed ID: 10382911
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.
    Martín MA; Rubio JC; Buchbinder J; Fernández-Hojas R; del Hoyo P; Teijeira S; Gámez J; Navarro C; Fernández JM; Cabello A; Campos Y; Cervera C; Culebras JM; Andreu AL; Fletterick R; Arenas J
    Ann Neurol; 2001 Nov; 50(5):574-81. PubMed ID: 11706962
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation analysis in myophosphorylase deficiency (McArdle's disease).
    Vorgerd M; Kubisch C; Burwinkel B; Reichmann H; Mortier W; Tettenborn B; Pongratz D; Lindemuth R; Tegenthoff M; Malin JP; Kilimann MW
    Ann Neurol; 1998 Mar; 43(3):326-31. PubMed ID: 9506549
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Rubio JC; Martín MA; Campos Y; Auciello R; Cabello A; Arenas J
    Muscle Nerve; 2000 Jan; 23(1):129-31. PubMed ID: 10590419
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
    Vieitez I; Teijeira S; Fernandez JM; San Millan B; Miranda S; Ortolano S; Louis S; Laforet P; Navarro C
    Neuromuscul Disord; 2011 Dec; 21(12):817-23. PubMed ID: 21802952
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.