Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation.
Kuhn
Jens
J
Miyajima
Hiroaki
H
Takahashi
Yoshitomo
Y
Kunath
Bernhard
B
Hartmann-Klosterkoetter
Ursula
U
Cooper-Mahkorn
Déirdre
D
Schaefer
Mark
M
Bewermeyer
Heiko
H
D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology; D002526:Cerebellar Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002570:Ceruloplasmin / Q000235:genetics* / Q000378:metabolism; D003300:Copper / Q000097:blood; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005192:Family Health; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D019189:Iron Metabolism Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008099:Liver / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D049268:Positron-Emission Tomography
D003300:Copper; D002570:Ceruloplasmin