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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… 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceBlepharoptosisCOLQ, 1-BP DEL, 1082CCOLQ, ARG282TER

Broader (1)

Myasthenic Syndromes, Congenital

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Role of oxidative stress in the progression of Alzheimer's disease.
Alzheimer's disease (AD) is a progressive neurodegenerative disorder that is characterized pathologically by the presence of… 
Highly Cited
2009
Highly Cited
2009
Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD
Highly Cited
2006
Highly Cited
2006
Mechanism of HBD-3 deficiency in atopic dermatitis.
Highly Cited
2003
Highly Cited
2003
Reinduction of Atrial Fibrillation Immediately After Termination of the Arrhythmia Is Mediated by Late Phase 3 Early Afterdepolarization–Induced Triggered Activity
Background—Atrial fibrillation (AF) at times recurs immediately after termination of the arrhythmia. The mechanism(s) responsible… 
Highly Cited
2000
Highly Cited
2000
EVOLUTION OF REPRODUCTIVE STRATEGIES IN THE SEXUALLY DECEPTIVE ORCHID OPHRYS SPHEGODES: HOW DOES FLOWER-SPECIFIC VARIATION OF ODOR SIGNALS INFLUENCE REPRODUCTIVE SUCCESS?
Abstract The orchid Ophrys sphegodes Miller is pollinated by sexually excited males of the solitary bee Andrena nigroaenea, which… 
Highly Cited
2000
Highly Cited
2000
Resection of Solid Tumors Reverses T Cell Defects and Restores Protective Immunity1
We have previously reported that CTL were demonstrable early after inoculation of CMS5 fibrosarcoma cells, but that they… 
Highly Cited
1989
Highly Cited
1989
Quinidine-induced action potential prolongation, early afterdepolarizations, and triggered activity in canine Purkinje fibers. Effects of stimulation rate, potassium, and magnesium.
Early afterdepolarization (EAD)-induced triggered activity is thought to contribute to the cardiac arrhythmogenic effects of… 
Highly Cited
1987
Highly Cited
1987
Natural history of asymptomatic extracranial arterial disease. Results of a long-term prospective study.
The natural history of asymptomatic extracranial arterial disease (EAD) was studied prospectively in 339 patients admitted for… 
Highly Cited
1985
Highly Cited
1985
Epidemiology of multiple sclerosis in US veterans
World War II or Korean Conflict veterans with MS (5,305 in number) and pre-illness-matched controls were compared for residence… 
Highly Cited
1982
Highly Cited
1982
Thymus-independent antigens: complexity of B-lymphocyte activation revealed.
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