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Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300084/ https://www.ncbi.nlm.nih.gov/pubmed/37369645 http://dx.doi.org/10.1038/s41531-023-00526-9 |
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| author | Lange, Lara M. Avenali, Micol Ellis, Melina Illarionova, Anastasia Keller Sarmiento, Ignacio J. Tan, Ai-Huey Madoev, Harutyun Galandra, Caterina Junker, Johanna Roopnarain, Karisha Solle, Justin Wegel, Claire Fang, Zih-Hua Heutink, Peter Kumar, Kishore R. Lim, Shen-Yang Valente, Enza Maria Nalls, Mike Blauwendraat, Cornelis Singleton, Andrew Mencacci, Niccolo Lohmann, Katja Klein, Christine |
| author_facet | Lange, Lara M. Avenali, Micol Ellis, Melina Illarionova, Anastasia Keller Sarmiento, Ignacio J. Tan, Ai-Huey Madoev, Harutyun Galandra, Caterina Junker, Johanna Roopnarain, Karisha Solle, Justin Wegel, Claire Fang, Zih-Hua Heutink, Peter Kumar, Kishore R. Lim, Shen-Yang Valente, Enza Maria Nalls, Mike Blauwendraat, Cornelis Singleton, Andrew Mencacci, Niccolo Lohmann, Katja Klein, Christine |
| author_sort | Lange, Lara M. |
| collection | PubMed |
| description | The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and variable clinical expressivity of known disease-causing variants. We aim to perform short- and long-read whole-genome sequencing for up to 10,000 patients with parkinsonism. Important features of this project are global involvement and focusing on historically underrepresented populations. |
| format | Online Article Text |
| id | pubmed-10300084 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-103000842023-06-29 Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) Lange, Lara M. Avenali, Micol Ellis, Melina Illarionova, Anastasia Keller Sarmiento, Ignacio J. Tan, Ai-Huey Madoev, Harutyun Galandra, Caterina Junker, Johanna Roopnarain, Karisha Solle, Justin Wegel, Claire Fang, Zih-Hua Heutink, Peter Kumar, Kishore R. Lim, Shen-Yang Valente, Enza Maria Nalls, Mike Blauwendraat, Cornelis Singleton, Andrew Mencacci, Niccolo Lohmann, Katja Klein, Christine NPJ Parkinsons Dis Brief Communication The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of already identified genetic causes, such as reduced penetrance and variable clinical expressivity of known disease-causing variants. We aim to perform short- and long-read whole-genome sequencing for up to 10,000 patients with parkinsonism. Important features of this project are global involvement and focusing on historically underrepresented populations. Nature Publishing Group UK 2023-06-27 /pmc/articles/PMC10300084/ /pubmed/37369645 http://dx.doi.org/10.1038/s41531-023-00526-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Brief Communication Lange, Lara M. Avenali, Micol Ellis, Melina Illarionova, Anastasia Keller Sarmiento, Ignacio J. Tan, Ai-Huey Madoev, Harutyun Galandra, Caterina Junker, Johanna Roopnarain, Karisha Solle, Justin Wegel, Claire Fang, Zih-Hua Heutink, Peter Kumar, Kishore R. Lim, Shen-Yang Valente, Enza Maria Nalls, Mike Blauwendraat, Cornelis Singleton, Andrew Mencacci, Niccolo Lohmann, Katja Klein, Christine Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) |
| title | Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) |
| title_full | Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) |
| title_fullStr | Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) |
| title_full_unstemmed | Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) |
| title_short | Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) |
| title_sort | elucidating causative gene variants in hereditary parkinson’s disease in the global parkinson’s genetics program (gp2) |
| topic | Brief Communication |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300084/ https://www.ncbi.nlm.nih.gov/pubmed/37369645 http://dx.doi.org/10.1038/s41531-023-00526-9 |
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