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 *

130 related articles for article (PubMed ID: 8447317)

  • 1. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
    Tsujino S; Shanske S; Sakoda S; Fenichel G; DiMauro S
    Am J Hum Genet; 1993 Mar; 52(3):472-7. PubMed ID: 8447317
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
    Tsujino S; Shanske S; Sakoda S; Toscano A; DiMauro S
    Muscle Nerve Suppl; 1995; 3():S50-3. PubMed ID: 7603528
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
    Toscano A; Tsujino S; Vita G; Shanske S; Messina C; Dimauro S
    Muscle Nerve; 1996 Sep; 19(9):1134-7. PubMed ID: 8761269
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase.
    Castella-Escola J; Ojcius DM; LeBoulch P; Joulin V; Blouquit Y; Garel MC; Valentin C; Rosa R; Climent-Romeo F; Cohen-Solal M
    Gene; 1990 Jul; 91(2):225-32. PubMed ID: 2145198
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family.
    Sakoda S; Shanske S; DiMauro S; Schon EA
    J Biol Chem; 1988 Nov; 263(32):16899-905. PubMed ID: 2846553
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
    Hadjigeorgiou GM; Kawashima N; Bruno C; Andreu AL; Sue CM; Rigden DJ; Kawashima A; Shanske S; DiMauro S
    Neuromuscul Disord; 1999 Oct; 9(6-7):399-402. PubMed ID: 10545043
    [TBL] [Abstract][Full Text] [Related]  

  • 7. cDNA encoding type B subunit of rat phosphoglycerate mutase: its isolation and nucleotide sequence.
    Uchida K
    Arch Biochem Biophys; 1991 Aug; 288(2):558-61. PubMed ID: 1832843
    [TBL] [Abstract][Full Text] [Related]  

  • 8. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13.
    Castella-Escola J; Mattei MG; Ojcius DM; Passage E; Valentin C; Cohen-Solal M
    Hum Genet; 1990 Jan; 84(2):210-2. PubMed ID: 2153628
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expression of phosphoglycerate mutase mRNA in differentiating rat satellite cell cultures.
    Castellà-Escolà J; Ureña J; Alterio J; Carreras J; Martelly I; Climent F
    FEBS Lett; 1990 Jul; 268(1):24-6. PubMed ID: 2166685
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
    Koo B; Oskarsson B
    Neuromuscul Disord; 2016 Oct; 26(10):688-690. PubMed ID: 27612597
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.
    Vita G; Toscano A; Bresolin N; Meola G; Fortunato F; Baradello A; Barbiroli B; Frassineti C; Zaniol P; Messina C
    J Neurol; 1994 Mar; 241(5):289-94. PubMed ID: 8006681
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama.
    Salameh J; Goyal N; Choudry R; Camelo-Piragua S; Chong PS
    Muscle Nerve; 2013 Jan; 47(1):138-40. PubMed ID: 23169535
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Developmental activation of phosphoglycerate mutase-2 in the testis of the mouse.
    Fundele R; Winking H; Illmensee K; Jägerbauer EM
    Dev Biol; 1987 Dec; 124(2):562-6. PubMed ID: 2824255
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.
    Lemarchandel V; Joulin V; Valentin C; Rosa R; Galactéros F; Rosa J; Cohen-Solal M
    Blood; 1992 Nov; 80(10):2643-9. PubMed ID: 1421379
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of the first described mutation of human red blood cell phosphoglycerate mutase.
    de Atauri P; Repiso A; Oliva B; Vives-Corrons JL; Climent F; Carreras J
    Biochim Biophys Acta; 2005 Jun; 1740(3):403-10. PubMed ID: 15949708
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Muscle phosphoglycerate mutase (PGAM) deficiency: a second case.
    Bresolin N; Ro YI; Reyes M; Miranda AF; DiMauro S
    Neurology; 1983 Aug; 33(8):1049-53. PubMed ID: 6308514
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy.
    Poulton KR; Khan AA; Rossi ML; Riddoch D
    Funct Neurol; 1994; 9(1):47-58. PubMed ID: 8082854
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.
    Tonin P; Bruno C; Cassandrini D; Savio C; Tavazzi E; Tomelleri G; Piccolo G
    Neuromuscul Disord; 2009 Nov; 19(11):776-8. PubMed ID: 19783439
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
    Shanske S; Sakoda S; Hermodson MA; DiMauro S; Schon EA
    J Biol Chem; 1987 Oct; 262(30):14612-7. PubMed ID: 2822696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Isolation and sequencing of a cDNA encoding the B isozyme of rat phosphoglycerate mutase.
    Ureña JM; Graña X; de Lecea L; Ruiz P; Castellà J; Carreras J; Pons G; Climent F
    Gene; 1992 Apr; 113(2):281-2. PubMed ID: 1533381
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.