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Items: 1 to 20 of 159

1.

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 28;249(3):648-51.

PMID:
9731190
2.

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).

Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S.

Ann Neurol. 1994 Mar;35(3):349-53.

PMID:
8122886
3.

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.

PMID:
9215682
4.
5.

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ.

Am J Med Genet A. 2005 Feb 15;133A(1):82-4.

PMID:
15637709
6.

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE.

Biochem Biophys Res Commun. 1997 Jul 30;236(3):544-8.

PMID:
9245685
7.

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.

8.

Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

Shirakawa K, Takahashi Y, Miyajima H.

Neurology. 2006 Mar 28;66(6):925-7.

PMID:
16567715
9.

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.

Hendrickx J, Coucke P, Dams E, Lee P, Odièvre M, Corbeel L, Fernandes JF, Willems PJ.

Hum Mol Genet. 1995 Jan;4(1):77-83.

PMID:
7711737
10.

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R.

Am J Hum Genet. 1995 Feb;56(2):381-7.

13.

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 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9.

PMID:
18401027
14.

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. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18.

PMID:
20080404
15.

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.

PMID:
8298647
16.
17.

Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.

Ookawara T, Davé V, Willems P, Martin JJ, de Barsy T, Matthys E, Yoshida A.

Arch Biochem Biophys. 1996 Mar 1;327(1):35-40.

PMID:
8615693
18.

[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies].

Laforêt P, Eymard B, Lombès A, Duboc D, Jehenson P, Rocchiccioli F, Chaussain M, Chateau D, Brunet P, Fardeau M.

Rev Neurol (Paris). 1996 Jun-Jul;152(6-7):458-64. Review. French.

PMID:
8944243
19.

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.

PMID:
9384616
20.

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S.

Neuromuscul Disord. 2009 Mar;19(3):207-11. doi: 10.1016/j.nmd.2008.12.004. Epub 2009 Jan 20.

PMID:
19157875

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