دورية أكاديمية
Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease
| العنوان: | Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease |
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| المؤلفون: | Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, J. Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica |
| المصدر: | Clinical Parkinsonism & Related Disorders, Vol 10, Iss , Pp 100236- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | Valosin-containing-protein (VCP) pathogenic variant, Parkinson’s disease, Missense variant, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | We describe a 66-year-old woman with Parkinson’s disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (VCP) gene. She responded excellently to L-dopa, had no cognitive or motoneuronal dysfunction. Laboratory analyses and MRI were unremarkable. Genetic testing revealed a heterozygous variant in VCP(NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H). |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2590-1125 27495728 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2590112524000057; https://doaj.org/toc/2590-1125 |
| DOI: | 10.1016/j.prdoa.2024.100236 |
| URL الوصول: | https://doaj.org/article/274957282a294c2cb50f7c142f2f4d8a |
| رقم الأكسشن: | edsdoj.274957282a294c2cb50f7c142f2f4d8a |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 25901125 27495728 |
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| DOI: | 10.1016/j.prdoa.2024.100236 |