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000277789 1001_ $$0P:(DE-2719)9002038$$aLange, Lara M$$b0
000277789 245__ $$aThe LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
000277789 260__ $$a[London]$$bSpringer Nature$$c2025
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000277789 520__ $$aLRRK2-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 clinical presentation resembles other LRRK2-PD forms. Combined with published functional evidence showing strongly enhanced LRRK2 kinase activity, we provide evidence that LRRK2 p.L1795F is pathogenic.
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000277789 7001_ $$00000-0002-5702-0980$$aLevine, Kristin$$b1
000277789 7001_ $$aFox, Susan H$$b2
000277789 7001_ $$aMarras, Connie$$b3
000277789 7001_ $$aAhmed, Nazish$$b4
000277789 7001_ $$aKuznetsov, Nicole$$b5
000277789 7001_ $$aVitale, Dan$$b6
000277789 7001_ $$00000-0002-8982-7885$$aIwaki, Hirotaka$$b7
000277789 7001_ $$0P:(DE-2719)9000191$$aLohmann, Katja$$b8
000277789 7001_ $$00000-0002-6438-9911$$aMarsili, Luca$$b9
000277789 7001_ $$00000-0002-3389-136X$$aEspay, Alberto J$$b10
000277789 7001_ $$aBauer, Peter$$b11
000277789 7001_ $$aBeetz, Christian$$b12
000277789 7001_ $$00009-0000-0830-9289$$aMartin, Jessica$$b13
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000277789 7001_ $$aChen, Honglei$$b16
000277789 7001_ $$aLeonard, Hampton$$b17
000277789 7001_ $$00000-0003-0319-4325$$aNalls, Mike A$$b18
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000277789 7001_ $$00000-0002-5473-3774$$aMorris, Huw R$$b20
000277789 7001_ $$aSingleton, Andrew B$$b21
000277789 7001_ $$aKlein, Christine$$b22
000277789 7001_ $$0P:(DE-2719)2810837$$aBlauwendraat, Cornelis$$b23
000277789 7001_ $$0P:(DE-2719)9001362$$aFang, Zih-Hua$$b24$$eLast author
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