Tomaselli, Pedro J <br/><br/>
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.  [electronic resource] 

 -  Journal of the peripheral nervous system : JPNS  12 2017 
 - 460-463 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1529-8027 
<br/><br/><label>Standard No.: </label>10.1111/jns.12235  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Autism Spectrum Disorder--genetics<br/>Humans<br/>Kinesins--genetics<br/>Male<br/>Mutation, Missense<br/>Paraplegia--genetics<br/>Peripheral Nervous System Diseases--genetics<br/>Phenotype<br/>Young Adult