Caporali, Leonardo <br/><br/>
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.  [electronic resource] 

 -  Annals of neurology  07 2020 
 - 18-32 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1531-8249 
<br/><br/><label>Standard No.: </label>10.1002/ana.25723  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATP-Dependent Proteases--genetics<br/>ATPases Associated with Diverse Cellular Activities--genetics<br/>Adolescent<br/>Adult<br/>Aged<br/>Child<br/>Female<br/>GTP Phosphohydrolases--genetics<br/>Genetic Testing<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation<br/>Optic Atrophy--genetics<br/>Optic Nerve Diseases--genetics<br/>Pedigree<br/>Exome Sequencing<br/>Young Adult