Myasthenic Syndromes, Congenital

Known as: Congenital Myasthenic Syndrome, Syndrome, Congenital Myasthenic, Myasthenia Gravis, Congenital 
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1948-2017
0204019482016

Papers overview

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2008
2008
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often… (More)
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2007
2007
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor… (More)
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Highly Cited
2004
Highly Cited
2004
We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle… (More)
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2002
2002
BACKGROUND Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance. They are caused by missense… (More)
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Highly Cited
2001
Highly Cited
2001
Choline acetyltransferase (ChAT; EC ) catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at… (More)
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1999
1999
We have found that mutant acetylcholine receptor channels (AChRs) that cause slow-channel congenital myasthenic syndromes are… (More)
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Highly Cited
1996
Highly Cited
1996
Mutations in genes encoding the epsilon, delta, beta and alpha subunits of the end plate acetylcholine (ACh) receptor (AChR) are… (More)
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Highly Cited
1996
Highly Cited
1996
We describe the genetic and kinetic defects for a low-affinity fast channel disease of the acetylcholine receptor (AChR) that… (More)
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Highly Cited
1995
Highly Cited
1995
In a congenital myasthenic syndrome with a severe endplate myopathy, patch-clamp studies revealed markedly prolonged… (More)
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Highly Cited
1995
Highly Cited
1995
In five members of a family and another unrelated person affected by a slow-channel congenital myasthenic syndrome (SCCMS… (More)
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