Martin, Elodie <br/><br/>
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.  [electronic resource] 

 -  American journal of human genetics  Feb 2013 
 - 238-44 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2012.11.021  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Animals<br/>Brain--pathology<br/>Child<br/>Child, Preschool<br/>Family<br/>Female<br/>Glucosylceramidase<br/>Humans<br/>Infant<br/>Male<br/>Middle Aged<br/>Motor Neurons--pathology<br/>Mutation--genetics<br/>Neuroimaging<br/>Pedigree<br/>Spastic Paraplegia, Hereditary--enzymology<br/>Young Adult<br/>Zebrafish<br/>Zebrafish Proteins--genetics<br/>beta-Glucosidase--genetics