Jobling, Rebekah K <br/><br/>
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.  [electronic resource] 

 -  Brain : a journal of neurology  Jun 2015 
 - 1505-17 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>1460-2156 
<br/><br/><label>Standard No.: </label>10.1093/brain/awv057  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>Humans<br/>Lebanon<br/>Lymphocytes--metabolism<br/>Male<br/>Metalloendopeptidases--genetics<br/>Mitochondrial Proteins--metabolism<br/>Mutation--genetics<br/>Pedigree<br/>Protein Subunits--genetics<br/>Spinocerebellar Degenerations--genetics<br/>Young Adult<br/>Mitochondrial Processing Peptidase