• C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts 

      Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manual; Kia, Demis A.; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole Andreas; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Mercè; Borroni, Barbara; Bowns, Lucy; Bråthen, Geir; Bruni, Amalia C; Chiang, Huei-Hsin; Clarimon, Jordi; Colville, Shuna; Conidi, Maria E; Cope, Tom E; Cruchaga, Carlos; Cupidi, Chiara; Di Battista, Maria Elena; Diehl-Schmid, Janine; Diez-Fairen, Monica; Dols-Icardo, Oriol; Durante, Elisabetta; Flisar, Dusan; Frangipane, Francesca; Galimberti, Daniela; Gallo, Maura; Gallucci, Mauricio; Ghidoni, Roberta; Graff, Caroline; Grafman, Jordan H; Grossman, Murray; Hardy, John; Hernández, Isabel; Holloway, Guy J T; Huey, Edward D; Illán-Gala, Ignacio; Karydas, Anna; Khoshnood, Behzad; Kramberger, Milica G.; Kristiansen, Mark K; Sando, Sigrid Botne (Peer reviewed; Journal article, 2020)
      Objective: We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European ...
    • 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 ...
    • GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study 

      Rongve, Arvid; Witoelar, Aree; Ruiz, Agustín; Athanasiu, Lavinia; Abdelnour, Carla; Clarimon, Jordi; Heilmann-Heimbach, Stefanie; Hernández, Isabel; Moreno-Grau, Sonia; de Rojas, Itziar; Morenas-Rodríguez, Estrella; Fladby, Tormod; Sando, Sigrid Botne; Bråthen, Geir; Blanc, Frédéric; Bousiges, Olivier; Lemstra, Afina W.; van Steenoven, Inger; Londos, Elisabet; Almdahl, Ina Selseth; Pålhaugen, Lene; Eriksen, Jon Alm; Djurovic, Srdjan; Stordal, Eystein; Saltvedt, Ingvild; Ulstein, Ingun; Bettella, Francesco; Desikan, Rahul S.; Idland, Ane-Victoria; Toft, Mathias; Pihlstrøm, Lasse; Snaedal, Jon; Tárraga, Lluís; Boada, Mercè; Lleó, Alberto; Stefánsson, Hreinn; Stefánsson, Kári; Ramírez, Alfredo; Aarsland, Dag; Andreassen, Ole Andreas (Journal article; Peer reviewed, 2019)
      Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we ...
    • New insights into the genetic etiology of Alzheimer's disease and related dementias 

      Bellenguez, Céline; Küçükali, Fahri; Jansen, Iris E.; Kleineidam, Luca; Moreno-Grau, Sonia; Amin, Najaf; Naj, Adam C.; Campos-Martin, Rafael; Grenier-Boley, Benjamin; Andrade, Victor; Holmans, Peter A.; Boland, Anne; Damotte, Vincent; van der Lee, Sven J.; Costa, Marcos R.; Kuulasmaa, Teemu; Yang, Qiong; de Rojas, Itziar; Bis, Joshua C.; Yaqub, Amber; Prokic, Ivana; Chapuis, Julien; Ahmad, Shahzad; Giedraitis, Vilmantas; Aarsland, Dag; Garcia-Gonzalez, Pablo; Abdelnour, Carla; Alarcón-Martín, Emilio; Alcolea, Daniel; Alegret, Montserrat; Alvarez, Ignacio; Álvarez, Victoria; Armstrong, Nicola J.; Tsolaki, Anthoula; Antúnez, Carmen; Appollonio, Ildebrando; Arcaro, Marina; Archetti, Silvana; Pastor, Alfonso Arias; Arosio, Beatrice; Athanasiu, Lavinia; Bailly, Henri; Banaj, Nerisa; Baquero, Miquel; Barral, Sandra; Beiser, Alexa; Pastor, Ana Belén; Below, Jennifer E.; Benchek, Penelope; Benussi, Luisa; Berr, Claudine; Besse, Céline; Bessi, Valentina; Binetti, Giuliano; Bizarro, Alessandra; Blesa, Rafael; Boada, Mercè; Boerwinkle, Eric; Borroni, Barbara; Boschi, Silvia; Bossù, Paola; Bråthen, Geir; Bressler, Jan; Bresner, Catherine; Brodaty, Henry; Brookes, Keeley J.; Brusco, Luis Ignacio; Buiza-Rueda, Dolores; Bûrger, Katharina; Burholt, Vanessa; Bush, William S.; Calero, Miguel; Cantwell, Laura B.; Chene, Geneviève; Chung, Jaeyoon; Cuccaro, Michael L.; Carracedo, Ángel; Cecchetti, Roberta; Cervera-Carles, Laura; Charbonnier, Camille; Chen, Hung-Hsin; Chillotti, Caterina; Ciccone, Simona; Claassen, Jurgen A H R; Clark, Christopher; Conti, Elisa; Corma-Gómez, Anaïs; Costantini, Emanuele; Custodero, Carlo; Daian, Delphine; Dalmasso, Maria Carolina; Daniele, Antonio; Dardiotis, Efthimios; Dartigues, Jean-François; de Deyn, Peter Paul; de Paiva Lopes, Katia; de Witte, Lot D.; Debette, Stéphanie; Deckert, Jürgen; Del Ser, Teodoro; Denning, Nicola; DeStefano, Anita; Dichgans, Martin; Diehl-Schmid, Janine; Diez-Fairen, Mónica; Rossi, Paolo Dionigi; Djurovic, Srdjan; Duron, Emmanuelle; Düzel, Emrah; Dufouil, Carole; Eiriksdottir, Gudny; Engelborghs, Sebastiaan; Escott-Price, Valentina; Espinosa, Ana; Ewers, Michael; Faber, Kelley M.; Fabrizio, Tagliavini; Nielsen, Sune Fallgaard; Fardo, David W.; Farotti, Lucia; Fenoglio, Chiara; Fernández-Fuertes, Marta; Ferrari, Raffaele; Ferreira, Catarina B.; Ferri, Evelyn; Fin, Bertrand; Fischer, Peter; Fladby, Tormod; Fließbach, Klaus; Fongang, Bernard; Fornage, Myriam; Fortea, Juan; Foroud, Tatiana M.; Fostinelli, Silvia; Fox, Nick C.; Franco-Macías, Emlio; Bullido, María J; Frank-García, Ana; Froelich, Lutz; Fulton-Howard, Brian; Galimberti, Daniela; García-Alberca, Jose Maria; García-González, Pablo; Garcia-Madrona, Sebastian; Garcia-Ribas, Guillermo; Ghidoni, Roberta; Giegling, Ina; Giorgio, Giaccone; Goate, Alison M.; Goldhardt, Oliver; Gomez-Fonseca, Duber; González-Pérez, Antonio; Graff, Caroline; Grande, Giulia; Green, Emma; Grimmer, Timo; Grünblatt, Edna; Grunin, Michelle; Gudnason, Vilmundur; Guetta-Baranes, Tamar; Haapasalo, Annakaisa; Hadjigeorgiou, Georgios; Haines, Jonathan L.; Hamilton-Nelson, Kara L.; Hampel, Harald; Hanon, Olivier; Hardy, John; Hartmann, Annette M.; Hausner, Lucrezia; Harwood, Janet; Heilmann-Heimbach, Stefanie; Helisalmi, Seppo; Heneka, Michael T.; Hernández, Isabel; Herrmann, Martin J.; Hoffmann, Per; Holmes, Clive; Holstege, Henne; Vilas, Raquel Huerto; Hulsman, Marc; Humphrey, Jack; Biessels, Geert Jan; Jian, Xueqiu; Johansson, Charlotte; Jun, Gyungah R.; Kastumata, Yuriko; Kauwe, John; Kehoe, Patrick G.; Kilander, Lena; Ståhlbom, Anne Kinhult; Kivipelto, Miia; Koivisto, Anne; Kornhuber, Johannes; Kosmidis, Mary H.; Kukull, Walter A.; Kuksa, Pavel P.; Kunkle, Brian W.; Kuzma, Amanda B.; Lage, Carmen; Laukka, Erika J.; Launer, Lenore; Lauria, Alessandra; Lee, Chien-Yueh; Lehtisalo, Jenni; Lerch, Ondrej; Lleó, Alberto; Longstreth, William; Lopez, Oscar; de Munain, Adolfo Lopez; Love, Seth; Löwemark, Malin; Luckcuck, Lauren; Lunetta, Kathryn L.; Ma, Yiyi; Macías, Juan; MacLeod, Catherine A.; Maier, Wolfgang; Mangialasche, Francesca; Spallazzi, Marco; Marquié, Marta; Marshall, Rachel; Martin, Eden R.; Montes, Angel Martín; Rodríguez, Carmen Martínez; Masullo, Carlo; Mayeux, Richard; Mead, Simon; Mecocci, Patrizia; Medina, Miguel; Meggy, Alun; Mehrabian, Shima; Mendoza, Silvia; Menéndez-González, Manuel; Mir, Pablo; Moebus, Susanne; Mol, Merel; Molina-Porcel, Laura; Montrreal, Laura; Morelli, Laura; Moreno, Fermin; Morgan, Kevin; Mosley, Thomas; Nöthen, Markus M.; Muchnik, Carolina; Mukherjee, Shubhabrata; Nacmias, Benedetta; Ngandu, Tiia; Nicolas, Gael; Nordestgaard, Børge G; Olaso, Robert; Orellana, Adelina; Orsini, Michela; Ortega, Gemma; Padovani, Alessandro; Paolo, Caffarra; Papenberg, Goran; Parnetti, Lucilla; Pasquier, Florence; Pastor, Pau; Peloso, Gina; Pérez-Cordón, Alba; Pérez-Tur, Jordi; Pericard, Pierre; Peters, Oliver; Pijnenburg, Yolande A L; Pineda, Juan A.; Piñol-Ripoll, Gerard; Pisanu, Claudia; Polak, Thomas; Popp, Julius; Posthuma, Danielle; Priller, Josef; Puerta, Raquel; Quenez, Olivier; Quintela, Inés; Thomassen, Jesper Qvist; Rábano, Alberto; Rainero, Innocenzo; Rajabli, Farid; Ramakers, Inez; Real, Luis M.; Reinders, Marcel J T; Reitz, Christiane; Reyes-Dumeyer, Dolly; Ridge, Perry; Riedel-Heller, Steffi; Riederer, Peter; Roberto, Natalia; Rodriguez-Rodriguez, Eloy; Rongve, Arvid; Allende, Irene Rosas; Rosende-Roca, Maitée; Royo, Jose Luis; Rubino, Elisa; Rujescu, Dan; Sáez, María Eugenia; Sakka, Paraskevi; Saltvedt, Ingvild; Sanabria, Ángela; Sánchez-Arjona, María Bernal; Sanchez-Garcia, Florentino; Juan, Pascual Sánchez; Sánchez-Valle, Raquel; Sando, Sigrid Botne; Sarnowski, Chloé; Satizabal, Claudia L.; Scamosci, Michela; Scarmeas, Nikolaos; Scarpini, Elio; Scheltens, Philip; Scherbaum, Norbert; Scherer, Martin; Schmid, Matthias; Schneider, Anja; Schott, Jonathan M.; Selbæk, Geir; Seripa, Davide; Serrano, Manuel; Sha, Jin; Shadrin, Alexey; Skrobot, Olivia; Slifer, Susan; Snijders, Gijsje J L; Soininen, Hilkka; Solfrizzi, Vincenzo; Solomon, Alina; Song, Yeunjoo; Sorbi, Sandro; Sotolongo-Grau, Oscar; Spalletta, Gianfranco; Spottke, Annika; Squassina, Alessio; Stordal, Eystein; Tartan, Juan Pablo; Tárraga, Lluís; Tesí, Niccolo; Thalamuthu, Anbupalam; Thomas, Tegos; Tosto, Giuseppe; Traykov, Latchezar; Tremolizzo, Lucio; Tybjærg-Hansen, Anne; Uitterlinden, Andre; Ullgren, Abbe; Ulstein, Ingun; Valero, Sergi; Valladares, Otto; Broeckhoven, Christine Van; Vance, Jeffery; Vardarajan, Badri N.; van der Lugt, Aad; Dongen, Jasper Van; van Rooij, Jeroen; van Swieten, John; Vandenberghe, Rik; Verhey, Frans; Vidal, Jean-Sébastien; Vogelgsang, Jonathan; Vyhnalek, Martin; Wagner, Michael; Wallon, David; Wang, Li-San; Wang, Ruiqi; Weinhold, Leonie; Wiltfang, Jens; Windle, Gill; Woods, Bob; Yannakoulia, Mary; Zare, Habil; Zhao, Yi; Zhang, Xiaoling; Zhu, Congcong; Zulaica, Miren; Farrer, Lindsay A.; Psaty, Bruce M.; Ghanbari, Mohsen; Raj, Towfique; Sachdev, Perminder; Mather, Karen; Jessen, Frank; Ikram, M Arfan; de Mendonça, Alexandre; Hort, Jakub; Tsolaki, Magda; Pericak-Vance, Margaret A.; Amouyel, Philippe; Williams, Julie; Frikke-Schmidt, Ruth; Clarimon, Jordi; Deleuze, Jean-François; Rossi, Giacomina; Seshadri, Sudha; Andreassen, Ole; Ingelsson, Martin; Hiltunen, Mikko; Sleegers, Kristel; Schellenberg, Gerard D.; van Duijn, Cornelia M.; Sims, Rebecca; van der Flier, Wiesje M.; Ruiz, Agustín; Ramirez, Alfredo; Lambert, Jean-Charles (Peer reviewed; Journal article, 2022)
      Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a ...