Delplanque, Jérôme <br/><br/>
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.  [electronic resource] 

 -  Brain : a journal of neurology  Oct 2014 
 - 2657-63 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2156 
<br/><br/><label>Standard No.: </label>10.1093/brain/awu202  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Age of Onset<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Chromosomes, Human, Pair 1--genetics<br/>Cognition Disorders--genetics<br/>Cohort Studies<br/>Conserved Sequence<br/>DNA Mutational Analysis<br/>Exome--genetics<br/>Female<br/>France<br/>Genetic Linkage<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Intelligence Tests<br/>Introns<br/>Male<br/>Membrane Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation--physiology<br/>Neuropsychological Tests<br/>Pedigree<br/>Polymerase Chain Reaction<br/>Spinocerebellar Degenerations--genetics<br/>Young Adult