title: Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
authors.forename: Frans
authors.initials: F
authors.lastname: Brugman
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.forename: H Jurgen
authors.initials: HJ
authors.lastname: Schelhaas
authors.forename: Willy M
authors.initials: WM
authors.lastname: Nillesen
authors.forename: John H J
authors.initials: JH
authors.lastname: Wokke
authors.forename: Bart P C
authors.initials: BP
authors.lastname: van de Warrenburg
authors.forename: Leonard H
authors.initials: LH
authors.lastname: van den Berg
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D005819:Genetic Markers