Canafoglia, Laura <br/><br/>
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.  [electronic resource] 

 -  Neurology  Jun 2014 
 - 2003-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1526-632X 
<br/><br/><label>Standard No.: </label>10.1212/WNL.0000000000000482  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Diagnosis, Differential<br/>Exome--genetics<br/>Female<br/>Genome-Wide Association Study--methods<br/>Humans<br/>Male<br/>Mucolipidoses--diagnosis<br/>Mutation<br/>Myoclonus--diagnosis<br/>Neuraminidase--genetics<br/>Pedigree