AlMuhaizea, Mohammed <br/><br/>
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.  [electronic resource] 

 -  Acta neuropathologica  04 2020 
 - 791-794 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-0533 
<br/><br/><label>Standard No.: </label>10.1007/s00401-020-02128-8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain Diseases--genetics<br/>Child<br/>Child, Preschool<br/>Epilepsy--genetics<br/>Female<br/>Humans<br/>Male<br/>Microcephaly--genetics<br/>Movement Disorders--genetics<br/>Mutation<br/>Pedigree<br/>Vesicular Transport Proteins--genetics