Skeletal muscle disorders of glycogenolysis and glycolysis (Q38845735)

6 September 2017

1 reference

title

Skeletal muscle disorders of glycogenolysis and glycolysis (English)

1 reference

glycogen catabolic process

6 September 2017

1 reference

Richard Godfrey

1

1 reference

6 September 2017

Ros Quinlivan

series ordinal

2

1 reference

6 September 2017

language of work or name

English

0 references

publication date

27 May 2016

1 reference

6 September 2017

Nature Reviews Neurology

1 reference

6 September 2017

12

1 reference

6 September 2017

393-402

1 reference

6 September 2017

7

1 reference

https://scigraph.springernature.com/pub.10.1038/nrneurol.2016.75

6 September 2017

0 references

cites work

Glycogen storage diseases: new perspectives

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Lysosomal storage diseases--the horizon expands

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Non-exercise activity thermogenesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

McArdle disease: a clinical review

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Exercise in muscle glycogen storage diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

False negative histochemical reaction for myophosphorylase activity in fulminant sepsis due to methicillin resistant Staphylococcus aureus

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Changes in the cross-striations of muscle during contraction and stretch and their structural interpretation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Structural changes in muscle during contraction; interference microscopy of living muscle fibres

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

A metabolic myopathy due to absence of muscle phosphorylase

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

A diagnostic cycle test for McArdle's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Muscle as a consumer of lactate

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Quantitative assessment of pathways for lactate disposal in skeletal muscle fiber types

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Contracture of phosphorylase deficient muscle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

American College of Sports Medicine position stand. Quantity and quality of exercise for developing and maintaining cardiorespiratory, musculoskeletal, and neuromotor fitness in apparently healthy adults: guidance for prescribing exercise

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Physical fitness and all-cause mortality. A prospective study of healthy men and women

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Cardiorespiratory fitness as a quantitative predictor of all-cause mortality and cardiovascular events in healthy men and women: a meta-analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Prediction of long-term prognosis in 12 169 men referred for cardiac rehabilitation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Peak oxygen intake and cardiac mortality in women referred for cardiac rehabilitation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Exercise capacity and mortality among men referred for exercise testing.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Extremely short duration high intensity interval training substantially improves insulin action in young healthy males

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Continuous low- to moderate-intensity exercise training is as effective as moderate- to high-intensity exercise training at lowering blood HbA(1c) in obese type 2 diabetes patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

The effect of a high-intensity interval training program on high-density lipoprotein cholesterol in young men

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

High-intensity interval aerobic training reduces hepatic very low-density lipoprotein-triglyceride secretion rate in men.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Divergent response of metabolite transport proteins in human skeletal muscle after sprint interval training and detraining

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Exercise training increases sarcolemmal and mitochondrial fatty acid transport proteins in human skeletal muscle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Aerobic conditioning: an effective therapy in McArdle's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

McArdle disease: what do neurologists need to know?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Fat metabolism during exercise in patients with McArdle disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Investigating sodium valproate as a treatment for McArdle disease in sheep

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

The Subgroups of Type III Glycogenosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Glycogen storage disease type III diagnosis and management guidelines

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Molecular basis of canine muscle type phosphofructokinase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Glycogen storage disease type IX: High variability in clinical phenotype

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Gene action in the X-chromosome of the mouse (Mus musculus L.)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Enolase: human tissue distribution and evidence for three different loci

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Multiple phenotypes in phosphoglucomutase 1 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Characterization of the oxidative metabolism in lactate dehydrogenase A deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Polyglucosan storage myopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.75

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

31 March 2020

1 reference

12 December 2020

Tarui disease and distal glycogenoses: clinical and genetic update

1 reference

12 December 2020

Myopathy due to a defect in muscle glycogen breakdown

1 reference

12 December 2020

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

1 reference

12 December 2020

Creatine for treating muscle disorders

1 reference

12 December 2020

Myopathy and parkinsonism in phosphoglycerate kinase deficiency

1 reference

12 December 2020

Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEUROL.2016.75

1 reference

Dimensions Publication ID

6 September 2017

0 references

1 reference