Akizu, Naiara <br/><br/>
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.  [electronic resource] 

 -  Nature genetics  May 2015 
 - 528-34 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>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.3256  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Atrophy--genetics<br/>Autophagy<br/>Cerebellar Diseases--genetics<br/>Cerebellum--pathology<br/>Child, Preschool<br/>Female<br/>Gene Frequency<br/>Humans<br/>Infant<br/>Lod Score<br/>Lysosomal Storage Diseases--genetics<br/>Lysosomes--metabolism<br/>Male<br/>Mutation<br/>Phagosomes--metabolism<br/>Sorting Nexins--genetics<br/>Spinocerebellar Ataxias--genetics<br/>Syndrome<br/>Zebrafish