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RAPSN gene

Known as: CMS1D, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD, CMS1E 
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
Only around 80% of patients with generalized myasthenia gravis (MG) have serum antibodies to acetylcholine receptor [AChR… Expand
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Highly Cited
2008
Highly Cited
2008
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia… Expand
Highly Cited
2004
Highly Cited
2004
We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the… Expand
Highly Cited
2002
Highly Cited
2002
Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and… Expand
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Highly Cited
1999
Highly Cited
1999
Agrin released from motor nerve terminals activates a muscle-specific receptor tyrosine kinase (MuSK) in muscle cells to trigger… Expand
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Highly Cited
1998
Highly Cited
1998
The accumulation of dystrophin and associated proteins at the postsynaptic membrane of the neuromuscular junction and their co… Expand
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Highly Cited
1998
Highly Cited
1998
Rapsyn, a peripheral membrane protein of skeletal muscle, clusters nicotinic acetylcholine receptors (nAChRs) at high density in… Expand
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Review
1996
Review
1996
With their PDZ domains in the limelight, it is easy to overlook the fact that the Dlg/PSD-95 family of clustering proteins… Expand
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Highly Cited
1995
Highly Cited
1995
The 43 kDa AChR-associated protein rapsyn is required for the clustering of nicotinic acetylcholine receptors (AChRs) at the… Expand
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Highly Cited
1995
Highly Cited
1995
OF numerous synaptic components that have been identified, perhaps the best-studied are the nicotinic acetylcholine receptors… Expand