McArdle disease: what do neurologists need to know? (Q37285873)

19 August 2017

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title

McArdle disease: what do neurologists need to know? (English)

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19 August 2017

1

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19 August 2017

6

Joaquín Arenas

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19 August 2017

Gisela Nogales-Gadea

2

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19 August 2017

Margarita Pérez

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3

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19 August 2017

Miguel A Martín

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4

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19 August 2017

Antoni L Andreu

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5

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19 August 2017

language of work or name

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1 October 2008

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Nature Clinical Practice Neurology

19 August 2017

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19 August 2017

4

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19 August 2017

10

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19 August 2017

568-577

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McArdle's disease presenting as unexplained dyspnea in a young woman.

19 August 2017

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

Fatal infantile form of muscle phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

McArdle disease with rhabdomyolysis induced by rosuvastatin: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

No spontaneous second wind in muscle phosphofructokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

Three new mutations in patients with myophosphorylase deficiency (McArdle disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

Treatment of McArdle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: a noninvasive 31P-MRS and EMG study

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

The pathophysiology of McArdle's disease: clues to regulation in exercise and fatigue

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https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Reduced levels of skeletal muscle Na+K+ -ATPase in McArdle disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Phenotype modulators in myophosphorylase deficiency

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https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Genotype modulators of clinical severity in McArdle disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Favorable responses to acute and chronic exercise in McArdle patients

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https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

The ACE gene and muscle performance

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

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https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

AMPD1 genotypes and exercise capacity in McArdle patients.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Exercise Capacity in a Child With McArdle Disease

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https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Exercise capacity in a 78 year old patient with McArdle's disease: it is never too late to start exercising.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Glycogenosis type V (McArdle's disease) with hyperuricemia. A case report and clinical investigation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

McArdle's disease and anaesthesia: case reports. Review of potential problems and association with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

A metabolic myopathy due to absence of muscle phosphorylase

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

A diagnostic cycle test for McArdle's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Acute compartment syndrome after forearm ischemic work test in a patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

A nonischemic forearm exercise test for McArdle disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Molecular genetics of McArdle's disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

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/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle's disease: expression and re-expression of glycogen phosphorylase

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

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/10.1038%2FNCPNEURO0913

7 January 2021

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

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/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Improved energy kinetics following high protein diet in McArdle's syndrome. A 31P magnetic resonance spectroscopy study

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Myopathy in McArdle's syndrome. Improvement with a high-protein diet

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Are high-protein diets effective in McArdle's disease?

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Aerobic conditioning: an effective therapy in McArdle's disease

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https://api.crossref.org/works/10.1038%2FNCPNEURO0913

7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0913

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19 August 2017

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