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@ARTICLE{Lange:277789,
author = {Lange, Lara M and Levine, Kristin and Fox, Susan H and
Marras, Connie and Ahmed, Nazish and Kuznetsov, Nicole and
Vitale, Dan and Iwaki, Hirotaka and Lohmann, Katja and
Marsili, Luca and Espay, Alberto J and Bauer, Peter and
Beetz, Christian and Martin, Jessica and Factor, Stewart A
and Higginbotham, Lenora A and Chen, Honglei and Leonard,
Hampton and Nalls, Mike A and Mencacci, Niccolo E and
Morris, Huw R and Singleton, Andrew B and Klein, Christine
and Blauwendraat, Cornelis and Fang, Zih-Hua},
collaboration = {Program, Global Parkinson’s Genetics},
othercontributors = {Gatto, Emilia M and Kauffman, Marcelo and Khachatryan,
Samson and Tavadyan, Zaruhi and Shepherd, Claire E and
Hunter, Julie and Kumar, Kishore and Ellis, Melina and
Rentería, Miguel E and Koks, Sulev and Zimprich, Alexander
and Schumacher-Schuh, Artur F and Rieder, Carlos and Awad,
Paula Saffie and Tumas, Vitor and Camargos, Sarah and Fon,
Edward A and Monchi, Oury and Fon, Ted and Galleguillos,
Benjamin Pizarro and Olguin, Patricio and Miranda, Marcelo
and Bustamante, Maria Leonor and Chana, Pedro and Tang,
Beisha and Shang, Huifang and Guo, Jifeng and Chan, Piu and
Luo, Wei and Arboleda, Gonzalo and Orozco, Jorge and Del
Rio, Marlene Jimenez and Hernandez, Alvaro and Salama,
Mohamed and Kamel, Walaa A and Zewde, Yared Z and Brice,
Alexis and Corvol, Jean-Christophe and Westenberger, Ana and
Vollstedt, Eva-Juliane and Madoev, Harutyun and Trinh,
Joanne and Junker, Johanna and Illarionova, Anastasia and
Mollenhauer, Brit and Hopfner, Franziska and Höglinger,
Günter and Sharma, Manu and Gasser, Thomas and Groppa,
Sergiu and Akpalu, Albert and Xiromerisiou, Georgia and
Hadjigorgiou, Georgios and Dadiotis, Efthymios and Dagklis,
Ioannis and Tarnanas, Ioannis and Stefanis, Leonidas and
Stamelou, Maria and Medina, Alex and Chan, Germaine Hiu-Fai
and Cheung, Nelson Yuk-Fai and Ip, Nancy and Chan, Phillip
and Zhou, Xiaopu and Kishore, Asha and Kp, Divya and Pal,
Pramod and Kukkle, Prashanth Lingappa and Rajan, Roopa and
Borgohain, Rupam and Salari, Mehri and Quattrone, Andrea and
Gagliardi, Monica and Valente, Enza Maria and Avenali, Micol
and Annesi, Grazia and Parnetti, Lucilla and Schirinzi,
Tommaso and Funayama, Manabu and Hattori, Nobutaka and
Shiraishi, Tomotaka and Karimova, Altynay and Kaishibayeva,
Gulnaz and Shambetova, Cholpon and Krüger, Rejko and Tan,
Ai Huey and Ahmad-Annuar, Azlina and Lim, Shen-Yang and Tay,
Yi Wen and Norlinah, Mohamed Ibrahim and Murad, Nor Azian
Abdul and Azmin, Shahrul and Mohamed, Wael and
Martinez-Ramirez, Daniel and Rodriguez-Violante, Mayela and
Reyes-Pérez, Paula and Tserensodnom, Bayasgalan and Ojha,
Rajeev and Anderson, Tim J and Pitcher, Toni L and Sanyaolu,
Arinola and Okubadejo, Njideka and Ojo, Oluwadamilola and
Aasly, Jan O and Pihlstrøm, Lasse and Tan, Manuela and
Ur-Rehman, Shoaib and Cornejo-Olivas, Mario and Doquenia,
Maria Leila and Rosales, Raymond and Vinuela, Angel and
Iakovenko, Elena and Mubarak, Bashayer Al and Umair,
Muhammad and Tan, Eng-King and Foo, Jia Nee and Amod,
Ferzana and Carr, Jonathan and Bardien, Soraya and Jeon,
Beomseok and Kim, Yun Joong and Cubo, Esther and Alvarez,
Ignacio and Hoenicka, Janet and Beyer, Katrin and Periñan,
Maria Teresa and Pastor, Pau and El-Sadig, Sarah and Brolin,
Kajsa and Zweier, Christiane and Krack, Paul and Tinkhauser,
Gerd and Lin, Chin-Hsien and Kung, Pin-Jui and Wu,
Hsiu-Chuan and Wu, Ruey-Meei and Wu, Yihru and Amouri, Rim
and Ben Sassi, Samia and Başak, A Nazlı and Çakmak,
Özgür Öztop and Ertan, Sibel and Genc, Gencer and Noyce,
Alastair and Dey, Sumit and Martínez-Carrasco, Alejandro
and Schrag, Anette and Schapira, Anthony and Stafford,
Eleanor J and Houlden, Henry and Hardy, John and Mok, Kin
Ying and Rizig, Mie and Wood, Nicholas and Okunoye, Olaitan
and Kaiyrzhanov, Rauan and Weil, Rimona and Jasaityte,
Simona and Obese, Vida and Carroll, Camille and Bale, Claire
and Grosset, Donald and Williams, Nigel and Lewis, Patrick
Alfryn and Love, Seth and Stott, Simon and Pantazis,
Caroline B and Andersh, Kate and Screven, Laurel and
Bandres-Ciga, Sara and Sarmiento, Ignacio Juan Keller and
O'Grady, Alyssa and Siddiqi, Bernadette and Casey, Bradford
and Fiske, Brian and Comart, Charisse and Solle, Justin C
and Murphy, Kaileigh and Kuhl, Maggie and Louie, Naomi and
Chowdhury, Sohini and Sherer, Todd and Sobering, Andrew K
and Jonas, Cabell and Cruchaga, Carlos and Ibanez, Laura and
Wegel, Claire and Foroud, Tatiana and Hall, Deborah and
Hernandez, Dena and Kim, Jonggeol Jeff and Song, Yeajin and
Shiamim, Ejaz and Riley, Ekemini and Serrano, Geidy E and
Mata, Ignacio F and Inca-Martinez, Miguel and Williamson,
Jared and Jankovic, Joseph and Shulman, Joshua and Galvelis,
Kamalini Ghosh and Nuytemans, Karen and Kieburtz, Karl and
Markopoulou, Katerina and Marek, Kenneth and Chahine, Lana M
and Ruffrage, Lauren and Shulman, Lisa and Dean, Marissa and
Farrer, Matthew and Puckelwartz, Megan J and Lubbe, Steven
and Albin, Roger and Alcalay, Roy and Walker, Ruth and
Dumanis, Sonya and Xie, Tao and Beach, Thomas and Faghri,
Faraz and Makarious, Mary B and Koretsky, Mathew and Nguyen,
Duan and Nguyen, Toan and Atadzhanov, Masharip},
title = {{T}he {LRRK}2 p.{L}1795{F} variant causes {P}arkinson's
disease in the {E}uropean population.},
journal = {npj Parkinson's Disease},
volume = {11},
number = {1},
issn = {2373-8057},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2025-00467},
pages = {58},
year = {2025},
abstract = {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 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.},
cin = {AG Heutink},
ddc = {610},
cid = {I:(DE-2719)1210002},
pnm = {354 - Disease Prevention and Healthy Aging (POF4-354)},
pid = {G:(DE-HGF)POF4-354},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40133296},
doi = {10.1038/s41531-025-00896-2},
url = {https://pub.dzne.de/record/277789},
}
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