Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)-Reference-Cited by-同舟云学术

Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

Published:2023-06-27 Issue:1 Volume:9 Page:
ISSN:2373-8057
Container-title:npj Parkinson's Disease
language:en
Short-container-title:npj Parkinsons Dis.

Author:

Lange Lara M.^ORCID,Avenali Micol,Ellis Melina,Illarionova Anastasia^ORCID,Keller Sarmiento Ignacio J.^ORCID,Tan Ai-Huey^ORCID,Madoev Harutyun,Galandra Caterina,Junker Johanna,Roopnarain Karisha,Solle Justin,Wegel Claire,Fang Zih-Hua^ORCID,Heutink Peter^ORCID,Kumar Kishore R.^ORCID,Lim Shen-Yang,Valente Enza Maria^ORCID,Nalls Mike,Blauwendraat Cornelis^ORCID,Singleton Andrew^ORCID,Mencacci Niccolo,Lohmann Katja,Klein Christine^ORCID,

Abstract

AbstractThe 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.

Funder

Michael J. Fox Foundation and the Malaysian Ministry of Education Fundamental Research Grant Scheme

Michael J. Fox Foundation for Parkinson’s Research and the Aligning Science Across Parkinson’s Initiative

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology

Link

https://www.nature.com/articles/s41531-023-00526-9.pdf

Reference13 articles.

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2. Iwaki, H. et al. Penetrance of Parkinson’s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score. Mov. Disord. 35, 774–780 (2020).