Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
Brugman
Frans
F
Scheffer
Hans
H
Schelhaas
H Jurgen
HJ
Nillesen
Willy M
WM
Wokke
John H J
JH
van de Warrenburg
Bart P C
BP
van den Berg
Leonard H
LH
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
C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D005819:Genetic Markers