Wang, Julia <br/><br/>
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.  [electronic resource] 

 -  American journal of human genetics  12 2019 
 - 1237-1253 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2019.11.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Animals<br/>Atrophy--genetics<br/>Cerebellar Diseases--genetics<br/>Child<br/>Drosophila melanogaster--growth & development<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Lysosomes--metabolism<br/>Male<br/>Mitochondrial Proteins--genetics<br/>Nervous System Diseases--genetics<br/>Oxidative Stress<br/>Pedigree<br/>Phenotype<br/>Young Adult