دورية أكاديمية
The Rostock International Parkinson’s Disease (ROPAD) Study: protocol and initial findings
| العنوان: | The Rostock International Parkinson’s Disease (ROPAD) Study: protocol and initial findings |
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| المساهمون: | Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Skrahina, Volha, Gaber, Hanaa, Vollstedt, Eva-Juliane, Foerster, Toni M., Usnich, Tatiana, Curado, Filipa, Brueggemann, Norbert, Paul, Jefri, Bogdanovic, Xenia, Zulbahar, Selen, Olmedillas, Maria, Skobalj, Snezana, Ameziane, Najim, Bauer, Peter, Csoti, Ilona, Koleva-Alazeh, Natalia, Grittner, Ulrike, Westenberger, Ana, Kasten, Meike, Beetz, Christian, Klein, Christine, Rolfs, Arndt, ROPAD Study Group, School of Medicine |
| المصدر: | Movement Disorders |
| بيانات النشر: | Wiley International |
| سنة النشر: | 2022 |
| المجموعة: | Koç University Suna Kıraç Library’ Digital Collections |
| مصطلحات موضوعية: | Neurosciences and neurology, Parkinson's disease, Observational clinical study, Genetic factors, LRRK2, GBA |
| الوصف: | Background: genetic stratification of Parkinson's disease (PD) patients facilitates gene-tailored research studies and clinical trials. The objective of this study was to describe the design of and the initial data from the Rostock International Parkinson's Disease (ROPAD) study, an epidemiological observational study aiming to genetically characterize similar to 10,000 participants. Methods: recruitment criteria included (1) clinical diagnosis of PD, (2) relative of participant with a reportable LRRK2 variant, or (3) North African Berber or Ashkenazi Jew. DNA analysis involved up to 3 successive steps: (1) variant (LRRK2) and gene (GBA) screening, (2) panel sequencing of 68 PD-linked genes, and (3) genome sequencing. Results: initial data based on the first 1360 participants indicated that the ROPAD enrollment strategy revealed a genetic diagnostic yield of similar to 14% among a PD cohort from tertiary referral centers. Conclusions: the ROPAD screening protocol is feasible for high-throughput genetic characterization of PD participants and subsequent prioritization for gene-focused research efforts and clinical trials. ; Denali Therapeutics Inc. (South San Francisco, CA) partially funded laboratory testing services. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | |
| اللغة: | English |
| تدمد: | 0885-3185 1531-8257 |
| العلاقة: | Publisher version; Koç University Institutional Repository; Skrahina Volha et al. “The Rostock International Parkinson's Disease (Ropad) Study: Protocol and Initial Findings.” Movement Disorders 2021 pp. 1005–1010.; https://dx.doi.org/10.1002/mds.28416Test; IR03855.pdf; WoS; PubMed; NA; http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/10721Test |
| DOI: | 10.1002/mds.28416 |
| الإتاحة: | https://doi.org/10.1002/mds.28416Test http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/10721Test |
| رقم الانضمام: | edsbas.39F37A8A |
| قاعدة البيانات: | BASE |
| تدمد: | 08853185 15318257 |
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| DOI: | 10.1002/mds.28416 |