McArdle's disease. The unsolved mystery of the reappearing enzyme (Q34503802)

2 August 2017

title

McArdle's disease. The unsolved mystery of the reappearing enzyme (English)

1 reference

2 August 2017

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A Martinuzzi

1 reference

2 August 2017

G Schievano

series ordinal

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2 August 2017

A Nascimbeni

series ordinal

1 reference

2 August 2017

M Fanin

series ordinal

1 reference

2 August 2017

language of work or name

English

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publication date

1 June 1999

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The American Journal of Pathology

2 August 2017

published in

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2 August 2017

volume

154

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2 August 2017

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2 August 2017

page(s)

1893-1897

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Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients

2 August 2017

cites work

1 reference

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Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency

7 July 2018

1 reference

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The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

Histochemical Phosphorylase Activity in Regenerating Muscle Fibers from Myophosphorylase-Deficient Patients

7 July 2018

1 reference

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

7 July 2018

1 reference

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Structure and expression of human and rat aldolase isozyme genes: multiple mRNA species of aldolase A produced from a single gene

7 July 2018

1 reference

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Abnormal expression of glycogen phosphorylase genes in regenerated muscle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes

7 July 2018

1 reference

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Developmental expression of glycogenolytic enzymes in rabbit tissues: possible relationship to fetal lung maturation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

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

7 July 2018

1 reference

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Identification of a tissue-specific regulatory element within the human muscle glycogen phosphorylase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

Phosphorylase: a biological transducer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

McArdle disease: Phosphorylase activity in regenerating muscle fibers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1866615

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

7 July 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965447-8

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965447-8

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965447-8

Molecular genetic analysis of McArdle's disease in Spanish patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965447-8

Muscle-Type Phosphorylase Activity Present in Muscle Cells Cultured From Three Patients With Myophosphorylase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965447-8

Transcripts of alpha-cardiac and alpha-skeletal actins are early markers for myogenesis in the mouse embryo

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10362816

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)65447-8

1 reference

2 August 2017

1 reference

2 August 2017

1 reference