Airoldi, Giovanni <br/><br/>
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.  [electronic resource] 

 -  Neurogenetics  Feb 2010 
 - 91-100 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-009-0206-0  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Apoptosis<br/>Apraxia, Ideomotor--genetics<br/>Ataxia--genetics<br/>Camptothecin--pharmacology<br/>DNA Damage<br/>DNA Helicases<br/>Eye Diseases--genetics<br/>Female<br/>Homozygote<br/>Humans<br/>Hydrogen Peroxide--pharmacology<br/>Male<br/>Middle Aged<br/>Mitomycin--pharmacology<br/>Multifunctional Enzymes<br/>Mutation<br/>Pedigree<br/>RNA Helicases--genetics