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 *

143 related articles for article (PubMed ID: 10450796)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.
    Sugie H; Sugie Y; Ito M; Fukuda T; Nonaka I; Igarashi Y
    Clin Chim Acta; 1995 Apr; 236(1):81-6. PubMed ID: 7664468
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 2(8):1291-3. PubMed ID: 8401511
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Martín MA; Rubio JC; Campos Y; Ricoy JR; Cabello A; Arenas J
    Neuromuscul Disord; 2000 Aug; 10(6):447-9. PubMed ID: 10899452
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
    Tsujino S; Rubin LA; Shanske S; DiMauro S
    Hum Mutat; 1994; 4(1):73-5. PubMed ID: 7951262
    [No Abstract]   [Full Text] [Related]  

  • 15. [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; 42(1):29-33. PubMed ID: 10420954
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A splice-site mutation causing ovine McArdle's disease.
    Tan P; Allen JG; Wilton SD; Akkari PA; Huxtable CR; Laing NG
    Neuromuscul Disord; 1997 Jul; 7(5):336-42. PubMed ID: 9267848
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.
    Bartram C; Edwards RH; Clague J; Beynon RJ
    Biochim Biophys Acta; 1994 Jul; 1226(3):341-3. PubMed ID: 8054367
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
    Gospe SM; El-Schahawi M; Shanske S; Bruno C; DiMauro S; Hoye E; Walsh DA; Gorin FA
    Neurology; 1998 Oct; 51(4):1228-9. PubMed ID: 9781574
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.