Efthymiou, Stephanie <br/><br/>
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.  [electronic resource] 

 -  Brain : a journal of neurology  10 2019 
 - 2948-2964 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/awz248  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Alleles<br/>Axons--metabolism<br/>Cell Adhesion Molecules--genetics<br/>Child<br/>Child, Preschool<br/>Demyelinating Diseases--genetics<br/>Female<br/>Gene Frequency--genetics<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Myelin Sheath--genetics<br/>Nerve Fibers, Myelinated--physiology<br/>Nerve Growth Factors--genetics<br/>Nervous System Malformations<br/>Neurodevelopmental Disorders--genetics<br/>Neuroglia--metabolism<br/>Pedigree<br/>Peripheral Nerves<br/>Protein Isoforms--metabolism<br/>Ranvier's Nodes--genetics