Ceylan, Ahmet Cevdet <br/><br/>
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.  [electronic resource] 

 -  Acta neurologica Belgica  Dec 2021 
 - 1457-1462 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>2240-2993 
<br/><br/><label>Standard No.: </label>10.1007/s13760-020-01328-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child, Preschool<br/>Exons--genetics<br/>Female<br/>Gene Duplication--genetics<br/>Homozygote<br/>Humans<br/>Pedigree<br/>Receptors, Glutamate--genetics<br/>Siblings<br/>Spinocerebellar Degenerations--diagnostic imaging