McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene (Q38443406)

3 September 2017

1 reference

title

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene (English)

1 reference

3 September 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Astrid Brull

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alfredo Santalla

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Joaquín Arenas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Miguel Angel Martín

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alejandro Lucia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Antoni L Andreu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Noemi de Luna

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Tomàs Pinós

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

3 June 2015

1 reference

3 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

669-678

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

Effect of oral sucrose shortly before exercise on work capacity in McArdle disease

10 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Structural mechanism for glycogen phosphorylase control by phosphorylation and AMP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

The allosteric transition of glycogen phosphorylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Role of the active site gate of glycogen phosphorylase in allosteric inhibition and substrate binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Resistance (weight lifting) training in an adolescent with McArdle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle disease: a novel mutation in Jewish families from the Caucasus region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

THE ROLE OF ADENYLIC ACID IN THE ACTIVATION OF PHOSPHORYLASE

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Evolution of allosteric control in glycogen phosphorylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Electrostatic effects in the control of glycogen phosphorylase by phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

The crystal structure of phosphorylase beta at 6 A resolution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle disease: what do neurologists need to know?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Oral branched-chain amino acids do not improve exercise capacity in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Phenotype modulators in myophosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Cardiorespiratory fitness, physical activity, and quality of life in patients with McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Permanent muscle weakness in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

The family of glycogen phosphorylases: structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Role of 5'AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

A new allosteric site in glycogen phosphorylase b as a target for drug interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

One-year follow-up in a child with McArdle disease: exercise is medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle disease: a clinical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Novel mutation in the PYGM gene resulting in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle disease: a unique study model in sports medicine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

High-resolution genotyping by amplicon melting analysis using LCGreen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

Do carriers of PYGM mutations have symptoms of McArdle disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Subunit structure and amino-acid composition of crystallized human-muscle glycogen phosphorylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Emotionally-intense situations can result in rhabdomyolysis in McArdle disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Molecular characterization of McArdle's disease in two large Finnish families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Diagnosis of McArdle's disease by molecular genetic analysis of blood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Clinical and molecular characterization of McArdle's disease in Brazilian patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Motility of the N-terminal tail of phosphorylase b as revealed by crosslinking

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Glycogen phosphorylase: control by phosphorylation and allosteric effectors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A double-blind, placebo-controlled, crossover study of verapamil in exertional muscle pain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Favorable responses to acute and chronic exercise in McArdle patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Dantrolene sodium does influence the second-wind phenomenon in McArdle's disease. Electrophysiological evidence during exercise in a double-blind placebo-controlled, cross-over study in 5 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Catalytic site of glycogen phosphorylase: structure of the T state and specificity for alpha-D-glucose

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A double blind, placebo controlled, crossover trial of D-ribose in McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

A diagnostic cycle test for McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22806

7 January 2021

Identifiers

DOI

10.1002/HUMU.22806

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25914343%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference