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Receptor Associated Protein Of The Synapse (RAPSN)

CMS1D; CMS1E; RNF205; Rapsyn; Acetylcholine receptor-associated 43 kDa protein; 43 kDa postsynaptic protein; RING finger protein 205

43 kDa receptor-associated protein of the synapse is a protein belongs to a family of proteins that are receptor associated proteins of the synapse. It contains a conserved cAMP-dependent protein kinase phosphorylation site. It is believed to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Two splice variants have been identified for this gene.
Thought to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.

Organism species: Homo sapiens (Human)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Mus musculus (Mouse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins U095Mu01 Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
PU095Mu01 Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits KEU095Mu ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Rattus norvegicus (Rat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Canis familiaris; Canine (Dog)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Sus scrofa; Porcine (Pig)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Bos taurus; Bovine (Cattle)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Rhesus monkey (Simian)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Chicken (Gallus)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Ovis aries; Ovine (Sheep)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Oryctolagus cuniculus (Rabbit)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Cavia (Guinea pig )

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Equus caballus; Equine (Horse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Capra hircus; Caprine (Goat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Organism species: Pan-species (General)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Receptor Associated Protein Of The Synapse (RAPSN) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Receptor Associated Protein Of The Synapse (RAPSN) Bioactivity
Antibodies NONE Monoclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Receptor Associated Protein Of The Synapse (RAPSN) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Receptor Associated Protein Of The Synapse (RAPSN) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Receptor Associated Protein Of The Synapse (RAPSN) CLIA assay for Antigen Detection

Reference

"Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1."
Genomics 35:613-616(1996) [PubMed] [Europe PMC] [Abstract]

"Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome."
Am. J. Hum. Genet. 70:875-885(2002) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Control of rapsyn stability by the CUL-3-containing E3 ligase complex."
J. Biol. Chem. 284:8195-8206(2009) [PubMed] [Europe PMC] [Abstract]

"Identification of pathogenic mutations in the human rapsyn gene."
J. Hum. Genet. 48:204-207(2003) [PubMed] [Europe PMC] [Abstract]

"Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering."
Muscle Nerve 28:293-301(2003) [PubMed] [Europe PMC] [Abstract]

"Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients."
Neurology 60:1805-1810(2003) [PubMed] [Europe PMC] [Abstract]

"Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes."
Neurology 61:826-828(2003) [PubMed] [Europe PMC] [Abstract]

"Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine."
Neuromuscul. Disord. 14:202-207(2004) [PubMed] [Europe PMC] [Abstract]

"Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms."
Neuropediatrics 35:246-249(2004) [PubMed] [Europe PMC] [Abstract]

"Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations."
Neurology 67:1159-1164(2006) [PubMed] [Europe PMC] [Abstract]

"Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations."
Clin. Genet. 72:63-65(2007) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients."
Am. J. Hum. Genet. 82:222-227(2008) [PubMed] [Europe PMC] [Abstract]

"Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders."
Am. J. Hum. Genet. 82:464-476(2008) [PubMed] [Europe PMC] [Abstract]