Genetic deficiencies of the glycogen phosphorylase system

Multiple divergent mRNAs code for a single human calmodulin.

1988 • 233 citations

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)

1993 • 191 citations

Follow‐up of a report of a potential linkage for schizophrenia on chromosome 22q12‐q13.1: Part 2

1994 • 161 citations

Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes.

1988 • 136 citations

Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage.

1986 • 116 citations

The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit.

1988 • 92 citations

Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species.

1987 • 91 citations

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients

1990 • 88 citations

X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.

1969 • 84 citations

cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).

1988 • 84 citations

Localization of the Human Bona Fide Calmodulin Genes CALM1, CALM2, and CALM3 to Chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3

1993 • 80 citations

Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase

1987 • 78 citations

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

1992 • 71 citations

REPORTS

1994 • 69 citations

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

1988 • 67 citations

Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver

1969 • 65 citations

Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

1989 • 61 citations

Physical mapping of 60 DNA markers in the p21.1 → q21.3 region of the human X chromosome

1991 • 61 citations

Brain glycogen phosphorylase

1964 • 61 citations

Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing

1991 • 56 citations

Phosphorylase Kinase of the Liver: Deficiency in a Girl with Increased Hepatic Glycogen

1966 • 56 citations

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

1991 • 50 citations

Skeletal muscle phosphorylase kinase catalytic subunit mRNAs are expressed in heart tissue but not in liver.

1987 • 48 citations

Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency

1973 • 41 citations

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

1995 • 40 citations

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency

1982 • 39 citations

A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

1984 • 39 citations

Messenger Ribonucleic Acid Encoding an Apparent Isoform of Phosphorylase Kinase Catalytic Subunit is Abundant in the Adult Testis

1989 • 38 citations

Adult phosphorylase b kinase deficiency

1990 • 37 citations

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

1994 • 36 citations

Isolation and nucleotide sequence of a cDNA encoding human calmodulin.

1984 • 36 citations

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

1995 • 35 citations

Molecular cloning and enzymatic analysis of the rat homolog of “PhK-gamma T,” an isoform of phosphorylase kinase catalytic subunit.

1992 • 30 citations

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)

1994 • 26 citations

Localisation of the gene encoding the catalytic γ subunit of phosphorylase kinase to human chromosome bands 7p12-q21

1990 • 26 citations

A New Variant of Glycogen Storage Disease

1982 • 26 citations

Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence

1990 • 25 citations

Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome

1990 • 23 citations

Localization of a New Type of X-Linked Liver Glycogenosis to the Chromosomal Region Xp22 Containing the Liver α-Subunit of Phosphorylase Kinase (PHKA2)

1994 • 23 citations

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22

1991 • 20 citations

Regional mapping of a liver α-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp

1992 • 19 citations

Type VI glycogenosis: Biochemical demonstration of liver phosphorylase deficiency

1970 • 18 citations

X-linked liver glycogenosis: localization and isolation of a candidate gene

1993 • 17 citations

Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in Situ hybridization

1992 • 16 citations

Regional localization of loci on chromosome 14 using somatic cell hybrids

1994 • 15 citations

Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle

1989 • 13 citations

Pre- and postnatal diagnosis of glycogen storage disease

1980 • 11 citations

Glycogen phosphorylase b kinase deficiency in three siblings

1983 • 8 citations

[Heterogeneity of glycogenosis type VI. Study of leukocyte phosphorylase activity in 2 families].

1972 • 5 citations

Mapping of a Liver Phosphorylase Kinase α-Subunit Gene on the Mouse X Chromosome

1993 • 3 citations

Deleted Work

1955 • 0 citations