Vanni, Nicola <br/><br/>
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.  [electronic resource] 

 -  Annals of neurology  Aug 2014 
 - 206-12 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1531-8249 
<br/><br/><label>Standard No.: </label>10.1002/ana.24170  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Algeria<br/>Ceramides--biosynthesis<br/>Dementia--genetics<br/>Endoplasmic Reticulum--genetics<br/>Humans<br/>Membrane Proteins--genetics<br/>Mutation--genetics<br/>Myoclonic Epilepsies, Progressive--genetics<br/>Siblings<br/>Sphingosine N-Acyltransferase--genetics