• Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2) 

      Towns, Clodagh; Richer, Madeleine; Jasaityte, Simona; Stafford, Eleanor J.; Joubert, Julie; Antar, Tarek; Martinez-Carrasco, Alejandro; Makarious, Mary B.; Casey, Bradford; Vitale, Dan; Levine, Kristin; Leonard, Hampton; Pantazis, Caroline B.; Screven, Laurel A.; Hernandez, Dena G.; Wegel, Claire E.; Solle, Justin; Nalls, Mike A.; Blauwendraat, Cornelis; Singleton, Andrew B.; Tan, Manuela; Iwaki, Hirotaka; Morris, Huw R.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan; Pihlstrøm, Lasse; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazlı; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Noyce, Alastair; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Houlden, Henry; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip (Peer reviewed; Journal article, 2023)
      The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding ...
    • Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort 

      Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J.; Correia Guedes, Leonor; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y.; Abramycheva, Natalya Y.; Alvarez, Victoria; Menéndez-González, Manuel; Jesús Maestre, Silvia; Gómez-Garre, Pilar; Mir, Pablo; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che; Crosiers, David; Wszolek, Zbigniew K.; Ross, Owen A.; Jankovic, Joseph; Nishioka, Kenya; Funayama, Manabu; Clarimon, Jordi; Williams-Gray, Caroline H.; Camacho, Marta; Cornejo-Olivas, Mario; Torres-Ramirez, Luis; Wu, Yih-Ru; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet; Berg, Daniela; Kuhlenbäumer, Gregor; Kühn, Andrea A.; Borngräber, Friederike; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander; Puschmann, Andreas; Mellick, George D.; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano; Chase, Bruce; Markopoulou, Katerina; Satake, Wataru; Toda, Tatsushi; Rossi, Malco; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana A.; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genç, Gençer; de Carvalho Aguiar, Patricia; Barkhuizen, Melinda; Pimentel, Marcia M.G.; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias; Appel-Cresswell, Silke; Lang, Anthony E.; Skorvanek, Matej; Boon, Agnita J.W.; Krüger, Rejko; Sammler, Esther M.; Tumas, Vitor; Zhang, Bao-rong; Garraux, Gaetan; Chung, Sun Ju; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M.; Tan, Eng-King; Damásio, Joana; Klivényi, Péter; Kostic, Vladimir S.; Arkadir, David; Martikainen, Mika; Borges, Vanderci; Hertz, Jens Michael; Brighina, Laura; Spitz, Mariana; Suchowersky, Oksana; Riess, Olaf; Das, Parimal; Mollenhauer, Brit; Gatto, Emilia M.; Petersen, Maria Skaalum; Hattori, Nobutaka; Wu, Ruey-Meei; Illarioshkin, Sergey N.; Valente, Enza Maria; Aasly, Jan; Aasly, Anna; Alcalay, Roy N.; Thaler, Avner; Farrer, Matthew J.; Brockmann, Kathrin; Corvol, Jean-Christophe; Klein, Christine (Peer reviewed; Journal article, 2023)
      Background As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of ...
    • Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project 

      Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N.; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A.; Barkhuizen, Melinda; Basak, A Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Carmine Belin, Andrea; Carr, Jonathan; Clarimon, Jordi; Cornejo-Olivas, Mario; Correia Guedes, Leonor; Corvol, Jean-Christophe; Crosiers, David; Damásio, Joana; Das, Parimal; de Carvalho Aguiar, Patricia; De Rosa, Anna; Dorszewska, Jolanta; Ertan, Sibel; Ferese, Rosangela; Ferreira, Joaquim; Gatto, Emilia; Genç, Gençer; Giladi, Nir; Gómez-Garre, Pilar; Hanagasi, Hasmet; Hattori, Nobutaka; Hentati, Faycal; Hoffman-Zacharska, Dorota; Illarioshkin, Sergey N.; Jankovic, Joseph; Jesús, Silvia; Kaasinen, Valtteri; Kievit, Anneke; Klivenyi, Peter; Kostic, Vladimir; Koziorowski, Dariusz; Kühn, Andrea A.; Lang, Anthony E.; Lim, Shen-Yang; Lin, Chin-Hsien; Lohmann, Katja; Markovic, Vladana; Martikainen, Mika Henrik; Mellick, George; Merello, Marcelo; Milanowski, Lukasz; Mir, Pablo; Öztop-Çakmak, Özgür; Pimentel, Márcia Mattos Gonçalves; Pulkes, Teeratorn; Puschmann, Andreas; Rogaeva, Ekaterina; Sammler, Esther M.; Skaalum Petersen, Maria; Skorvanek, Matej; Spitz, Mariana; Suchowersky, Oksana; Tan, Ai Huey; Termsarasab, Pichet; Thaler, Avner; Tumas, Vitor; Valente, Enza Maria; van de Warrenburg, Bart; Williams-Gray, Caroline H.; Wu, Ruey-Mei; Zhang, Baorong; Zimprich, Alexander; Solle, Justin; Padmanabhan, Shalini; Klein, Christine (Peer reviewed; Journal article, 2023)
      Parkinson’s disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a ...
    • GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters 

      Gabbert, Carolin; Schaake, Susen; Lüth, Theresa; Much, Christoph; Klein, Christine; Aasly, Jan; Farrer, Matthew J.; Trinh, Joanne (Journal article; Peer reviewed, 2023)
    • Mitochondrial Mechanisms of LRRK2 G2019S Penetrance 

      Delcambre, Sylvie; Ghelfi, Jenny; Ouzren, Nazzima; Grandmougin, Lea; Delbrouck, Catherine; Seibler, Philip; Wasner, Kobi; Aasly, Jan; Klein, Christine; Trinh, Joanne; Pereira, Sandro L; Grünewald, Anne (Peer reviewed; Journal article, 2020)
      Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. ...
    • Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease 

      Kim, Jonggeol Jeffrey; Vitale, Dan; Otani, Diego Véliz; Lian, Michelle Mulan; Heilbron, Karl; Aslibekyan, Stella; Auton, Adam; Babalola, Elizabeth; Bell, Robert K.; Bielenberg, Jessica; Bryc, Katarzyna; Bullis, Emily; Cannon, Paul; Coker, Daniella; Partida, Gabriel Cuellar; Dhamija, Devika; Das, Sayantan; Elson, Sarah L.; Eriksson, Nicholas; Filshtein, Teresa; Fitch, Alison; Fletez-Brant, Kipper; Fontanillas, Pierre; Freyman, Will; Granka, Julie M.; Hernandez, Alejandro; Hicks, Barry; Hinds, David A.; Jewett, Ethan M.; Jiang, Yunxuan; Kukar, Katelyn; Kwong, Alan; Lin, Keng-Han; Llamas, Bianca A.; Lowe, Maya; McCreight, Jey C.; McIntyre, Matthew H.; Micheletti, Steven J.; Moreno, Meghan E.; Nandakumar, Priyanka; Nguyen, Dominique T.; Noblin, Elizabeth S.; O’Connell, Jared; Petrakovitz, Aaron A.; Poznik, G. David; Reynoso, Alexandra; Schloetter, Madeleine; Schumacher, Morgan; Shastri, Anjali J.; Shelton, Janie F.; Shi, Jingchunzi; Shringarpure, Suyash; Su, Qiaojuan Jane; Tat, Susana A.; Tchakouté, Christophe Toukam; Tran, Vinh; Tung, Joyce Y.; Wang, Xin; Wang, Wei; Weldon, Catherine H.; Wilton, Peter; Wong, Corinna D.; Iwaki, Hirotaka; Lake, Julie; Solsberg, Caroline Warly; Leonard, Hampton; Makarious, Mary B.; Tan, Eng-King; Singleton, Andrew B.; Bandres-Ciga, Sara; Noyce, Alastair J.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozc, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Divya, K.P.; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan; Pihlstrøm, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Veliz-Otani, Diego; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Brolin, Kajsa; Zweier, Christiane; Tinkhauser, Gerd; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazl; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Martínez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaityte, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Blauwendraat, Cornelis; Nalls, Mike A.; Foo, Jia Nee; Mata, Ignacio (Peer reviewed; Journal article, 2023)
      Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale ...