title: Screening of mutations in NOL3 in a myoclonic syndromes series.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK, antonella.mac@hotmail.it.
authors.forename: A
authors.initials: A
authors.lastname: Macerollo
authors.forename: N E
authors.initials: NE
authors.lastname: Mencacci
authors.forename: R
authors.initials: R
authors.lastname: Erro
authors.forename: C
authors.initials: C
authors.lastname: Cordivari
authors.forename: M J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000368:Aged; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D002540:Cerebral Cortex / Q000503:physiopathology*; D004569:Electroencephalography; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D013577:Syndrome
chemical_list: D051017:Apoptosis Regulatory Proteins; D009124:Muscle Proteins; C112246:NOL3 protein, human