Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.
Haack
Tobias
T
Friday
Douglas
D
Bender
Andreas
A
Rolfs
Arndt
A
Klopstock
Thomas
T
D001072:Apraxias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D004265:DNA Helicases; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D064251:Multifunctional Enzymes; D009154:Mutation; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020365:RNA Helicases / Q000235:genetics*
D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases