ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)

Known as: Congenital Myasthenic Syndrome Type Ic, CMS Ic, FORMERLY, EAD 
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
BACKGROUND Cardiotoxicity is a leading cause for drug attrition during pharmaceutical development and has resulted in numerous… (More)
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2011
2011
INTRODUCTION Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVES The hypothesis that an increased or prolonged Ca2+ transient during an abbreviated action potential can give rise to… (More)
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Highly Cited
2003
Highly Cited
2003
This paper reconciles two widely used decompositions of GDP into trend and cycle that yield starkly different results. The… (More)
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Highly Cited
2000
Highly Cited
2000
We generated the DUC18 T cell receptor transgenic mouse expressing an H-2Kd -restricted transgenic T cell receptor specific for… (More)
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Highly Cited
1999
Highly Cited
1999
In recent years, the growing interest of academics and policymakers in govemance has been reflected in the proliferation cross… (More)
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Highly Cited
1998
Highly Cited
1998
In skeletal muscle, acetylcholinesterase (AChE) exists in homomeric globular forms of type T catalytic subunits (ACHET) and… (More)
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Highly Cited
1995
Highly Cited
1995
A model of the cardiac ventricular action potential that accounts for dynamic changes in ionic concentrations was used to study… (More)
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Highly Cited
1989
Highly Cited
1989
Early afterdepolarizations (EADs) are a type of triggered activity found in heart muscle. We used voltage-clamped sheep cardiac… (More)
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Highly Cited
1986
Highly Cited
1986
Chemically induced sarcomas of inbred mice are immunogenic in syngeneic hosts, and preimmunization with tumor cells leads to… (More)
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