The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

LRRK2-PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The cl...

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Main Authors: Lange, Lara M., Levine, Kristin, Fox, Susan H., Marras, Connie, Ahmed, Nazish, Kuznetsov, Nicole, Vitale, Dan, Iwaki, Hirotaka, Lohmann, Katja, Marsili, Luca, Espay, Alberto J., Bauer, Peter, Beetz, Christian, Martin, Jessica, Factor, Stewart A., Higginbotham, Lenora A., Chen, Honglei, Leonard, Hampton, Nalls, Mike A., Mencacci, Niccolo E., Morris, Huw R., Singleton, Andrew B., Klein, Christine, Blauwendraat, Cornelis, Fang, Zih-Hua, Mohamed, Wael Mohamed Yousef
Format: Article
Language:en
en
en
Published: Springer Nature 2025
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Online Access:http://irep.iium.edu.my/120439/1/120439_The%20LRRK2%20p.L1795F%20variant.pdf
http://irep.iium.edu.my/120439/7/120439_The%20LRRK2%20p.L1795F%20variant_SCOPUS.pdf
http://irep.iium.edu.my/120439/13/120439_The%20LRRK2%20p.L1795F%20variant_WOS.pdf
http://irep.iium.edu.my/120439/
https://www.nature.com/articles/s41531-025-00896-2
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