(Q46015980)

18 December 2017

title

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

1 reference

18 December 2017

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John Vissing

1

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18 December 2017

Morten Duno

series ordinal

2

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18 December 2017

Marianne Schwartz

series ordinal

3

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18 December 2017

Ronald G Haller

series ordinal

4

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18 December 2017

language of work or name

English

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publication date

11 May 2009

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18 December 2017

published in

Brain

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18 December 2017

volume

132

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18 December 2017

issue

Pt 6

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18 December 2017

page(s)

1545-1552

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18 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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/10.1093%2FBRAIN%2FAWP065

Adenovirus-mediated delivery into myocytes of muscle glycogen phosphorylase, the enzyme deficient in patients with glycogen-storage disease type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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/10.1093%2FBRAIN%2FAWP065

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

No spontaneous second wind in muscle phosphofructokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Aerobic conditioning: an effective therapy in McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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/10.1093%2FBRAIN%2FAWP065

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Phenotype modulators in myophosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

61 Fructose-1,6-diphosphatase, phosphofructokinase, glycogen synthetase, phosphorylase, and protein kinase from swine kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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/10.1093%2FBRAIN%2FAWP065

Fat metabolism during exercise in patients with McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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/10.1093%2FBRAIN%2FAWP065

Genotype modulators of clinical severity in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Leg and arm lactate and substrate kinetics during exercise.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Glycolysis in skeletal muscle regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP065

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP065

1 reference

18 December 2017

1 reference

18 December 2017