Paramyotonia Congenita (disorder)

Known as: PMC, Paramyotonia Congenita of von Eulenburg, EULENBURG DISEASE 
An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is… (More)
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Highly Cited
2013
Highly Cited
2013
We undertook a two-stage genome-wide association study of Alzheimer's disease involving over 16,000 individuals. In stage 1 (3… (More)
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Highly Cited
2012
Highly Cited
2012
Exercise benefits a variety of organ systems in mammals, and some of the best-recognized effects of exercise on muscle are… (More)
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Highly Cited
2010
Highly Cited
2010
The ability to silence the activity of genetically specified neurons in a temporally precise fashion would open up the ability to… (More)
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Review
2009
Review
2009
In contrast to normal differentiated cells, which rely primarily on mitochondrial oxidative phosphorylation to generate the… (More)
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Highly Cited
2007
Highly Cited
2007
A genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust Case Control Consortium detected strong… (More)
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Highly Cited
2006
Highly Cited
2006
Economic choice is the behaviour observed when individuals select one among many available options. There is no intrinsically… (More)
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Highly Cited
1994
Highly Cited
1994
Mutations in the adult human skeletal muscle Na+ channel alpha subunit cause the disease paramyotonia congenita. Two paramyotonia… (More)
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Highly Cited
1994
Highly Cited
1994
Mutations in the skeletal muscle voltage-gated Na+ channel alpha-subunit have been found in patients with two distinct hereditary… (More)
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Highly Cited
1992
Highly Cited
1992
The periodic paralyses are a group of autosomal dominant muscle diseases sharing a common feature of episodic paralysis. In one… (More)
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