Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series...

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Autors principals: Neumann, Juliane, Bras, Jose, Deas, Emma, O'Sullivan, Sean S., Parkkinen, Laura, Lachmann, Robin H., Li, Abi, Holton, Janice, Guerreiro, Rita, Paudel, Reema, Segarane, Badmavady, Singleton, Andrew, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas, Wood, Nicholas W.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2702833/
https://ncbi.nlm.nih.gov/pubmed/19286695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awp044
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