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The complicated relationship between Gaucher disease and Parkinsonism: Insights from a rare disease
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for s...
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| Pubblicato in: | Neuron |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5327952/ https://ncbi.nlm.nih.gov/pubmed/28231462 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2017.01.018 |
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