Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

Brain

Volumn 136, Issue 8, 2013, Pages 2393-2404

  Tzoulis, Charalampos ^a,b   Tran, Gia Tuong ^b   Schwarzlmüller, Thomas ^a,b   Specht, Karsten ^a,b   Haugarvoll, Kristoffer ^a,b   Balafkan, Novin ^b   Lilleng, Peer K ^a,b   Miletic, Hrvoje ^a,b   Biermann, Martin ^a,b   Bindoff, Laurence A ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

Mitochondria; Neurodegenerative disease; Parkinson's disease; POLG; Substantia nigra

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; DOPAMINE TRANSPORTER; MITOCHONDRIAL DNA;

ARTICLE; BASAL GANGLION; BRAIN DISEASE; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; COPY NUMBER VARIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOPAMINERGIC NERVE CELL; ENZYME ACTIVE SITE; GENE MUTATION; HOMEOSTASIS; HUMAN; HUMAN TISSUE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRION; NERVE CELL; NERVE DEGENERATION; PARKINSONISM; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RESPIRATORY CHAIN; STRIATONIGRAL DEGENERATION; SUBSTANTIA NIGRA;

EID: 84880937493     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt103     Document Type: Article

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