Stum, Morgane <br/><br/>
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.  [electronic resource] 

 -  Human molecular genetics  Oct 2008 
 - 3166-79 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddn213  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetylcholinesterase--deficiency<br/>Alleles<br/>Animals<br/>Disease Models, Animal<br/>Electromyography<br/>Female<br/>Gene Dosage<br/>Heparan Sulfate Proteoglycans--deficiency<br/>Humans<br/>Isaacs Syndrome--enzymology<br/>Male<br/>Mice<br/>Mice, Inbred C57BL<br/>Mice, Mutant Strains<br/>Mice, Transgenic<br/>Motor Endplate--enzymology<br/>Muscle Contraction--genetics<br/>Mutation, Missense<br/>Osteochondrodysplasias--enzymology<br/>Phenotype