Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Brain

Volumn 129, Issue 10, 2006, Pages 2773-2783

  Cossins, Judy ^a   Burke, Georgina ^a,c   Maxwell, Susan ^a   Spearman, Hayley ^a   Man, Somai ^b   Kuks, Jan ^d   Vincent, Angela ^a   Palace, Jackie ^c   Fuhrer, Christian ^e   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c RADCLIFFE INFIRMARY   (United Kingdom)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Acetylcholine receptor; Congenital myasthenic syndrome; Neuromuscular junction; Rapsyn

Indexed keywords

AGRIN; CHOLINERGIC RECEPTOR; MUTANT PROTEIN; RAPSYN;

ADOLESCENT; ADULT; AGED; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MUSCLE FATIGUE; MUSCLE WEAKNESS; MYOTUBE; NEUROMUSCULAR TRANSMISSION; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; RAPSN GENE; TISSUE DISTRIBUTION; WILD TYPE;

ADULT; AGRIN; ANIMALS; BLOTTING, WESTERN; CELL LINE; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RECEPTORS, CHOLINERGIC; TRANSFECTION;

EID: 33749488034     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl219     Document Type: Article

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