Vulinovic, Franca <br/><br/>
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.  [electronic resource] 

 -  Human mutation  Sep 2014 
 - 1114-22 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22604  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Autophagy<br/>Cell Line<br/>Dystonia Musculorum Deformans--diagnosis<br/>Female<br/>Gene Frequency<br/>Humans<br/>Intracellular Space--metabolism<br/>Lysosomes--metabolism<br/>Male<br/>Middle Aged<br/>Molecular Chaperones--chemistry<br/>Mutation<br/>Phenotype<br/>Polymorphism, Single Nucleotide<br/>Protein Multimerization<br/>Protein Stability<br/>Protein Transport<br/>Proteolysis<br/>Signal Transduction<br/>Young Adult