Löbbe, Anna Mareike <br/><br/>
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.  [electronic resource] 

 -  Journal of molecular neuroscience : MN  Apr 2014 
 - 493-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1559-1166 
<br/><br/><label>Standard No.: </label>10.1007/s12031-013-0187-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATP-Dependent Proteases--genetics<br/>ATPases Associated with Diverse Cellular Activities<br/>Age of Onset<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Disease Progression<br/>Family Health<br/>Female<br/>Genes, Mitochondrial--genetics<br/>Germany<br/>Humans<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Spinocerebellar Ataxias--genetics