A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation

Neurobiology of Disease

Volumn 45, Issue 3, 2012, Pages 851-861

  Chevessier, Frédéric ^a   Peter, Christoph ^a   Mersdorf, Ulrike ^a   Girard, Emmanuelle ^b   Krejci, Eric ^b   McArdle, Joseph J ^c   Witzemann, Veit ^a  

^a MAX PLANCK INSTITUTE FOR MEDICAL RESEARCH   (Germany)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

Acetylcholine receptor; Homologous recombination; Mouse model; Neuromuscular junction; Slow channel congenital myasthenic syndrome

Indexed keywords

CHOLINERGIC RECEPTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL ORGANELLE; CONTROLLED STUDY; ENDPLATE POTENTIAL; EXCITOTOXICITY; GENE FREQUENCY; GENE MUTATION; GENE PRODUCT; GRIP STRENGTH; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; L221F GENE; MISSENSE MUTATION; MOUSE; MUSCLE STRENGTH; NERVE CELL PLASTICITY; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR SYNAPSE; NEUROTRANSMISSION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS;

ACETYLCHOLINESTERASE; AMINOPHENOLS; ANIMALS; BIOPHYSICS; DIAPHRAGM; DISEASE MODELS, ANIMAL; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HAND STRENGTH; HUMANS; ISOLEUCINE; MICE; MICE, TRANSGENIC; MICROSCOPY, ELECTRON, TRANSMISSION; MINIATURE POSTSYNAPTIC POTENTIALS; MOTOR ENDPLATE; MUTAGENESIS; MYASTHENIC SYNDROMES, CONGENITAL; NEUROFILAMENT PROTEINS; NEUROMUSCULAR JUNCTION; PATCH-CLAMP TECHNIQUES; PHENYLALANINE; RECEPTORS, NICOTINIC; S100 PROTEINS; SYNAPTOPHYSIN; TIME FACTORS;

EID: 84856570280     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.10.024     Document Type: Article

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