ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
Schneider
Susanne A
SA
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.
Paisan-Ruiz
Coro
C
Quinn
Niall P
NP
Lees
Andrew J
AJ
Houlden
Henry
H
Hardy
John
J
Bhatia
Kailash P
KP
D000328:Adult; D001921:Brain / Q000378:metabolism*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D009410:Nerve Degeneration / Q000209:etiology / Q000235:genetics / Q000473:pathology; D006180:Proton-Translocating ATPases / Q000235:genetics*
C514983:ATP13A2 protein, human; D007501:Iron; D006180:Proton-Translocating ATPases