345 related articles for article (PubMed ID: 12825073)
1. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel B; Hu B; Schroers A; Clemens PR; Moses SW; Shin YS; Pongratz D; Vorgerd M; Kilimann MW
Eur J Hum Genet; 2003 Jul; 11(7):516-26. PubMed ID: 12825073
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Maichele AJ; Burwinkel B; Maire I; Søvik O; Kilimann MW
Nat Genet; 1996 Nov; 14(3):337-40. PubMed ID: 8896567
[TBL] [Abstract][Full Text] [Related]
3. Muscle phosphorylase b kinase deficiency revisited.
Echaniz-Laguna A; Akman HO; Mohr M; Tranchant C; Talmant-Verbist V; Rolland MO; Dimauro S
Neuromuscul Disord; 2010 Feb; 20(2):125-7. PubMed ID: 20080404
[TBL] [Abstract][Full Text] [Related]
4. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
Burwinkel B; Moses SW; Kilimann MW
Hum Genet; 1997 Dec; 101(2):170-4. PubMed ID: 9402963
[TBL] [Abstract][Full Text] [Related]
5. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
Hirono H; Hayasaka K; Sato W; Takahashi T; Takada G
Biochem Mol Biol Int; 1995 Jul; 36(3):505-11. PubMed ID: 7549948
[TBL] [Abstract][Full Text] [Related]
6. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.
Schneider A; Davidson JJ; Wüllrich A; Kilimann MW
Nat Genet; 1993 Dec; 5(4):381-5. PubMed ID: 8298647
[TBL] [Abstract][Full Text] [Related]
7. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
Wehner M; Clemens PR; Engel AG; Kilimann MW
Hum Mol Genet; 1994 Nov; 3(11):1983-7. PubMed ID: 7874115
[TBL] [Abstract][Full Text] [Related]
8. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Burwinkel B; Shiomi S; Al Zaben A; Kilimann MW
Hum Mol Genet; 1998 Jan; 7(1):149-54. PubMed ID: 9384616
[TBL] [Abstract][Full Text] [Related]
9. Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
Ørngreen MC; Schelhaas HJ; Jeppesen TD; Akman HO; Wevers RA; Andersen ST; ter Laak HJ; van Diggelen OP; DiMauro S; Vissing J
Neurology; 2008 May; 70(20):1876-82. PubMed ID: 18401027
[TBL] [Abstract][Full Text] [Related]
10. A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Bisciglia M; Froissart R; Bedat-Millet AL; Romero NB; Pettazzoni M; Hogrel JY; Petit FM; Stojkovic T
J Neurol Sci; 2021 May; 424():117391. PubMed ID: 33799212
[TBL] [Abstract][Full Text] [Related]
11. Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ; Dalton A; Ramaswami U; Niinikoski H; Mention K; Kenny P; Kolho KL; Raiman J; Walter J; Treacy E; Tanner S; Sharrard M
Mol Genet Metab; 2007; 92(1-2):88-99. PubMed ID: 17689125
[TBL] [Abstract][Full Text] [Related]
12. Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).
Wehner M; Kilimann MW
Hum Genet; 1995 Nov; 96(5):616-8. PubMed ID: 8530014
[TBL] [Abstract][Full Text] [Related]
13. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Preisler N; Orngreen MC; Echaniz-Laguna A; Laforet P; Lonsdorfer-Wolf E; Doutreleau S; Geny B; Akman HO; Dimauro S; Vissing J
Neurology; 2012 Jan; 78(4):265-8. PubMed ID: 22238410
[TBL] [Abstract][Full Text] [Related]
14. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Burwinkel B; Amat L; Gray RG; Matsuo N; Muroya K; Narisawa K; Sokol RJ; Vilaseca MA; Kilimann MW
Hum Genet; 1998 Apr; 102(4):423-9. PubMed ID: 9600238
[TBL] [Abstract][Full Text] [Related]
15. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
Bruno C; Manfredi G; Andreu AL; Shanske S; Krishna S; Ilse WK; DiMauro S
Biochem Biophys Res Commun; 1998 Aug; 249(3):648-51. PubMed ID: 9731190
[TBL] [Abstract][Full Text] [Related]
16. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
Burwinkel B; Maichele AJ; Aagenaes O; Bakker HD; Lerner A; Shin YS; Strachan JA; Kilimann MW
Hum Mol Genet; 1997 Jul; 6(7):1109-15. PubMed ID: 9215682
[TBL] [Abstract][Full Text] [Related]
17. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Burwinkel B; Sanjad SA; Al-Sabban E; Al-Abbad A; Kilimann MW
Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651
[TBL] [Abstract][Full Text] [Related]
18. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Akman HO; Sampayo JN; Ross FA; Scott JW; Wilson G; Benson L; Bruno C; Shanske S; Hardie DG; Dimauro S
Pediatr Res; 2007 Oct; 62(4):499-504. PubMed ID: 17667862
[TBL] [Abstract][Full Text] [Related]
19. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Burwinkel B; Scott JW; Bührer C; van Landeghem FK; Cox GF; Wilson CJ; Grahame Hardie D; Kilimann MW
Am J Hum Genet; 2005 Jun; 76(6):1034-49. PubMed ID: 15877279
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]