دورية أكاديمية
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands
| العنوان: | A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands |
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| المؤلفون: | den Heijer, J.M., Cullen, V.C., Quadri, M. (Marialuisa), Schmitz, A., Hilt, D.C., Lansbury, P., Berendse, H.W. (Henk W.), van de Berg, W.D.J., Bie, R.M.A. (Rob) de, Boertien, J.M., Boon, A.J.W. (Agnita), Contarino, M.F., Hilten, J.J. (Jacobus) van, Hoff, J.I., van Mierlo, T., Munts, A.G., Plas, A.A. (Anton) van der, Ponsen, M.M., Baas, F. (Frank), Majoor-Krakauer, D, Bonifati, V. (Vincenzo), van de Laar, T., Groeneveld, G.J. (Geert Jan) |
| المصدر: | Movement Disorders vol. 35 no. 9, pp. 1667-1674 |
| سنة النشر: | 2020 |
| المجموعة: | RePub - Publications from Erasmus University, Rotterdam |
| مصطلحات موضوعية: | familial aggregation, GBA sequencing, genetic risk factor, glucocerebrosidase, heredity |
| الوصف: | Background: The most common genetic risk factor for Parkinson’s disease known is a damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a large cohort from a single population. The objective of this study was to assess the entire GBA1 gene in Parkinson’s disease from a single large population. Methods: The GBA1 gene was assessed in 3402 Dutch Parkinson’s disease patients using nextgeneration sequencing. Frequencies were compared with Dutch controls (n = 655). Family history of Parkinson’s disease was compared in carriers and noncarriers. Results: Fifteen percent of patients had a GBA1 nonsynonymous variant (including missense, frameshift, and recombinant alleles), compared with 6.4% of co |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | http://repub.eur.nl/pub/130712Test; urn:hdl:1765/130712 |
| DOI: | 10.1002/mds.28112 |
| الإتاحة: | https://doi.org/10.1002/mds.28112Test http://repub.eur.nl/pub/130712Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.ED91973D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/mds.28112 |
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