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Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

著者 Gegg ME , Burke D , Heales SJ , Cooper JM , Hardy J , Wood NW , Schapira AH
Ann Neurol.2012 Sep ; 72(3):455-63.
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Department of Clinical Neurosciences, University College London Institute of Neurology.

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Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains.
PMID: 23034917 [PubMed - in process]
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