Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease. (Q46571361)

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31 March 2020

title

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease (English)

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31 March 2020

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31 March 2020

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31 March 2020

Tomàs Pinós

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31 March 2020

Tue L Nielsen

series ordinal

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31 March 2020

Antoni L Andreu

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31 March 2020

John Vissing

series ordinal

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publication date

30 March 2016

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Journal of Neuropathology & Experimental Neurology

31 March 2020

published in

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volume

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issue

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page(s)

441-454

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

31 March 2020

cites work

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McArdle disease: a clinical review

21 January 2018

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

21 January 2018

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

21 January 2018

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Functional polymorphisms in dopamine and serotonin pathway genes

21 January 2018

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

21 January 2018

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Severe axial myopathy in McArdle disease.

21 January 2018

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A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

21 January 2018

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Pathological characteristics of glycogen storage disease III in skeletal muscle

21 January 2018

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

21 January 2018

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Contracture of phosphorylase deficient muscle

21 January 2018

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McArdle disease: Phosphorylase activity in regenerating muscle fibers

21 January 2018

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

21 January 2018

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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

21 January 2018

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Investigating sodium valproate as a treatment for McArdle disease in sheep

21 January 2018

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Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

21 January 2018

1 reference

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Fiber types in mammalian skeletal muscles

21 January 2018

1 reference

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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

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Single fiber analyses of glycogen-related proteins reveal their differential association with glycogen in rat skeletal muscle

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/JNEN/NLW018

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31 March 2020

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