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A novel α-synuclein missense mutation in Parkinson disease
Open accessAbstract
a-Synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date.We report a novel mutation (p.H50Q) in a pathologically proven case.Methods and results.Standard protocol approvals, registrations, and patient consents.Patients had given written informed consent for use of their brains in research.The study was approved by the local ethics committee.
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Citations
Cited by
α-synuclein toxicity in neurodegeneration: mechanism and therapeutic strategies
Wong, Y. C., & Krainc, D. (2017) · Nature Medicine · doi:10.1038/nm.4269 · Cited by 897
Bendor, J. T., Logan, T. P., & Edwards, R. H. (2013) · Neuron · doi:10.1016/j.neuron.2013.09.004 · Cited by 825
Cell Biology and Pathophysiology of α-Synuclein
Burré, J., Sharma, M., & Südhof, T. C. (2018) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024091 · Cited by 579
The Synaptic Function of α-Synuclein
Burré, J. (2015) · Journal of Parkinson's Disease · doi:10.3233/jpd-150642 · Cited by 573
The genetics of Parkinson disease
Deng, H., Wang, P., & Jankovic, J. (2018) · Ageing Research Reviews · doi:10.1016/j.arr.2017.12.007 · Cited by 530
Metadata
- Authors
- Proukakis, C., Dudzik, C. G., Brier, T., MacKay, D. S., Cooper, J. M., Millhauser, G. L., Houlden, H., & Schapira, A. H.
- Venue
- Neurology
- Published
- 2013-03-12
- Volume
- 80
- Issue
- 11
- Pages
- 1062-1064
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2072509284
- Cited by
- 449
- References
- 0
- FWCI
- 25.84
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A novel α-synuclein missense mutation in Parkinson disease. https://app.cochat.ai/papers/10.1212/wnl.0b013e31828727ba
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- Proukakis, C., Dudzik, C. G., Brier, T., MacKay, D. S., Cooper, J. M., Millhauser, G. L., Houlden, H., & Schapira, A. H. (2013). A novel α-synuclein missense mutation in Parkinson disease. Neurology. https://doi.org/10.1212/wnl.0b013e31828727ba
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
