Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions.
Betts-Henderson
J
J
Jaros
E
E
Krishnan
K J
KJ
Perry
R H
RH
Reeve
A K
AK
Schaefer
A M
AM
Taylor
R W
RW
Turnbull
D M
DM
D015139:Blotting, Southern; D001921:Brain / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D009186:Myelin Sheath / Q000473:pathology; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology*; D016133:Polymerase Chain Reaction; D013116:Spinal Cord / Q000473:pathology; D050994:Voltage-Dependent Anion Channels / Q000378:metabolism; D051844:alpha-Synuclein / Q000378:metabolism*
D004272:DNA, Mitochondrial; D050994:Voltage-Dependent Anion Channels; D051844:alpha-Synuclein; D003576:Electron Transport Complex IV; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human