ANNESI, GRAZIA
ANNESI, GRAZIA
Istituto per la Ricerca e l'Innovazione Biomedica - IRIB - Sede Secondaria Cosenza
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease
2025 Gagliardi, M.; Morelli, M.; Arabia, G.; Procopio, R.; Felicetti, A.; D'Amelio, M.; Talarico, M.; Gambardella, A.; Quattrone, A.; Annesi, G.; Quattrone, A.
Genome-wide association meta-analyses of drug-resistant epilepsy
2025 Leu, C.; Avbersek, A.; Stevelink, R.; Custodio, H. M.; Chen, S.; Speed, D.; Bennett, C. A.; Jonsson, L.; Unnsteinsdottir, U.; Jorgensen, A. L.; Cavalleri, G. L.; Delanty, N.; Craig, J. J.; Depondt, C.; Johnson, M. R.; Koeleman, B. P. C.; Hassanin, E.; Omidvar, M. E.; Krause, R.; Lerche, H.; Marson, A. G.; O'Brien, T. J.; Sander, J. W.; Sills, G. J.; Striano, P.; Zara, F.; Stefansson, H.; Stefansson, K.; May, P.; Neale, B. M.; Lal, D.; Berkovic, S. F.; Amadori, E.; Andrade, D. M.; Annesi, G.; Balagura, G.; Balestrini, S.; Barba, C.; Barboza, K.; Baumgartner, T. H.; Baykan, B.; Bebek, N.; Becker, F.; Bennett, C. A.; Berkovic, S. F.; Beydoun, A.; Bisulli, F.; Borggrafe, I.; Bosselmann, C.; Busch, R. M.; Canafoglia, L.; Castellotti, B.; Chou, I. -J.; Chung, S. -K.; Cotsapas, C.; Devinsky, O.; Dlugos, D. J.; Doccini, V.; Doherty, C. P.; Ellis, C. A.; El-Naggar, H.; Evans, M.; Ferraro, T. N.; Fitzgerald, M.; Fortunato, F.; French, J. A.; Freri, E.; Gagliardi, M.; Gambardella, A.; Goldman, A.; Granata, T.; Gupta, N.; Haas, K.; Hirose, S.; Hoeper, O.; Hung, P. -C.; Johnson, M. R.; Khoueiry-Zgheib, N.; Khoury, J.; Klein, K. M.; Knake, S.; Koupparis, A.; Kousiappa, I.; Krause, R.; Kunz, W. S.; Kuzniecky, R. I.; Kwan, P.; Labate, A.; Lacey, A.; Lal, D.; Lauxmann, S.; Lawthom, C.; Lerche, H.; Leu, C.; Lewis-Smith, D.; Liao, C.; Lin, C. -H.; Lin, K. -L.; Linnankivi, T.; Lowenstein, D. H.; Lui, C. H. T.; Madia, F.; Magri, S.; Maillard, L.; Manna, L.; Marques, P.; Mayer, T.; Mcgraw, C. M.; Meador, K. J.; Mei, D.; Minardi, R.; Mostacci, B.; Muccioli, L.; Muller-Schluter, K.; Nasreddine, W.; Neale, B. M.; Neubauer, B. A.; Papacostas, S. S.; Parrini, E.; Pendziwiat, M.; Petrovski, S.; Pickrell, W. O.; Powell, R. H. W.; Ragona, F.; Rees, M. I.; Rheims, S.; Riva, A.; Rosenow, F.; Ryvlin, P.; Sadleir, L. G.; Salman, B.; Salmon, A.; Sammarra, I.; Scala, M.; Scheffer, I. E.; Schubert-Bast, S.; Schulze-Bonhage, A.; Shiedley, B. R.; Sisodiya, S. M.; Sperling, M. R.; Steinhoff, B. J.; Stephani, U.; Strzelczyk, A.; Surges, R.; Suzuki, T.; Talarico, M.; Taneja, R. S.; Tanteles, G. A.; Tsai, M. -H.; Tumiene, B.; Turkdogan, D.; Valton, L.; Van Baalen, A.; Vetro, A.; Von Wrede, R.; Wagner, R. G.; Weber, Y. G.; Weckhuysen, S.; Widdess-Walsh, P.; Wiebe, S.; Wolking, S.; Yamakawa, K.; Yapici, Z.; Zahnert, F.; Zizovic, M.; Zsurka, G.; Ali, Q. Z.; Auce, P.; Avbersek, A.; Balling, R.; Becker, F.; Berghuis, B.; Borghei, M.; Brodie, M. J.; Campbell, E.; Cavalleri, G. L.; Chinthapalli, K.; Coppola, A.; Craig, J.; Delanty, N.; Demurtas, R.; Depondt, C.; Francis, B.; Gambardella, A.; Gudmundsson, L. J.; Heggeli, K.; Hengsbach, C.; Hutton, J. L.; Ingason, A.; Johnson, M. R.; Jorgensen, A.; Klein, K. M.; Koeleman, B. P. C.; Krause, R.; Krenn, M.; Kunz, W. S.; Langley, S. R.; Lerche, H.; Leu, C.; Marson, A. G.; Mccormack, M.; Moller, R. S.; Morris, A.; Muhle, H.; Nikanorova, M.; O'Brien, T. J.; Petrovski, S.; Rau, S.; Rener-Primec, Z.; Sander, J. W.; Sargsyan, N.; Schneider, R.; Sills, G. J.; Sisodiya, S. M.; Speed, D.; Srivastava, P. K.; Stefansson, H.; Stefansson, K.; Todaro, M.; Weber, Y. G.; Weckhuysen, S.; Willis, J.; Wolking, S.; Zimprich, F.; Sisodiya, S. M.
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy
2025 Gagliardi, M.; Procopio, R.; Annesi, G.; Buonocore, J.; Talarico, M.; Quattrone, A.; Quattrone, A.
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes
2025 Gagliardi, M.; Procopio, R.; Felicetti, A.; Annesi, G.; Talarico, M.; Vescio, B.; Quattrone, A.; Quattrone, A.
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
2025 Lange, L. M.; Levine, K.; Fox, S. H.; Marras, C.; Ahmed, N.; Kuznetsov, N.; Vitale, D.; Iwaki, H.; Lohmann, K.; Marsili, L.; Espay, A. J.; Bauer, P.; Beetz, C.; Martin, J.; Factor, S. A.; Higginbotham, L. A.; Chen, H.; Leonard, H.; Nalls, M. A.; Mencacci, N. E.; Morris, H. R.; Singleton, A. B.; Klein, C.; Blauwendraat, C.; Fang, Z. -H.; Atadzhanov, M.; Nguyen, T.; Nguyen, D.; Koretsky, M.; Makarious, M. B.; Faghri, F.; Beach, T.; Xie, T.; Dumanis, S.; Walker, R.; Alcalay, R.; Albin, R.; Lubbe, S.; Puckelwartz, M. J.; Farrer, M.; Dean, M.; Shulman, L.; Ruffrage, L.; Chahine, L. M.; Marek, K.; Markopoulou, K.; Kieburtz, K.; Nuytemans, K.; Galvelis, K. G.; Shulman, J.; Jankovic, J.; Williamson, J.; Inca-Martinez, M.; Mata, I. F.; Serrano, G. E.; Riley, E.; Shiamim, E.; Song, Y.; Kim, J. J.; Hernandez, D.; Hall, D.; Foroud, T.; Wegel, C.; Ibanez, L.; Cruchaga, C.; Jonas, C.; Sobering, A. K.; Sherer, T.; Chowdhury, S.; Louie, N.; Kuhl, M.; Murphy, K.; Solle, J. C.; Comart, C.; Fiske, B.; Casey, B.; Siddiqi, B.; O'Grady, A.; Sarmiento, I. J. K.; Bandres-Ciga, S.; Screven, L.; Andersh, K.; Pantazis, C. B.; Stott, S.; Love, S.; Lewis, P. A.; Williams, N.; Grosset, D.; Bale, C.; Carroll, C.; Obese, V.; Jasaityte, S.; Weil, R.; Kaiyrzhanov, R.; Okunoye, O.; Wood, N.; Rizig, M.; Mok, K. Y.; Hardy, J.; Houlden, H.; Stafford, E. J.; Schapira, A.; Schrag, A.; Martinez-Carrasco, A.; Dey, S.; Noyce, A.; Genc, G.; Ertan, S.; Cakmak, O. O.; Basak, A. N.; Ben Sassi, S.; Amouri, R.; Wu, Y.; Wu, R. -M.; Wu, H. -C.; Kung, P. -J.; Lin, C. -H.; Tinkhauser, G.; Krack, P.; Zweier, C.; Brolin, K.; El-Sadig, S.; Pastor, P.; Perinan, M. T.; Beyer, K.; Hoenicka, J.; Alvarez, I.; Cubo, E.; Kim, Y. J.; Jeon, B.; Bardien, S.; Carr, J.; Amod, F.; Foo, J. N.; Tan, E. -K.; Umair, M.; Mubarak, B. A.; Iakovenko, E.; Vinuela, A.; Rosales, R.; Doquenia, M. L.; Cornejo-Olivas, M.; Ur-Rehman, S.; Tan, M.; Pihlstrom, L.; Aasly, J. O.; Ojo, O.; Okubadejo, N.; Sanyaolu, A.; Pitcher, T. L.; Anderson, T. J.; Ojha, R.; Tserensodnom, B.; Reyes-Perez, P.; Rodriguez-Violante, M.; Martinez-Ramirez, D.; Mohamed, W.; Azmin, S.; Murad, N. A. A.; Norlinah, M. I.; Tay, Y. W.; Lim, S. -Y.; Ahmad-Annuar, A.; Tan, A. H.; Kruger, R.; Shambetova, C.; Kaishibayeva, G.; Karimova, A.; Shiraishi, T.; Hattori, N.; Funayama, M.; Schirinzi, T.; Parnetti, L.; Annesi, G.; Avenali, M.; Valente, E. M.; Gagliardi, M.; Quattrone, A.; Salari, M.; Borgohain, R.; Rajan, R.; Kukkle, P. L.; Pal, P.; Kp, D.; Kishore, A.; Zhou, X.; Chan, P.; Ip, N.; Cheung, N. Y. -F.; Chan, G. H. -F.; Medina, A.; Stamelou, M.; Stefanis, L.; Tarnanas, I.; Dagklis, I.; Dadiotis, E.; Hadjigorgiou, G.; Xiromerisiou, G.; Akpalu, A.; Groppa, S.; Gasser, T.; Sharma, M.; Hoglinger, G.; Hopfner, F.; Mollenhauer, B.; Illarionova, A.; Junker, J.; Trinh, J.; Madoev, H.; Vollstedt, E. -J.; Westenberger, A.; Corvol, J. -C.; Brice, A.; Zewde, Y. Z.; Kamel, W. A.; Salama, M.; Hernandez, A.; Del Rio, M. J.; Orozco, J.; Arboleda, G.; Luo, W.; Chan, P.; Guo, J.; Shang, H.; Tang, B.; Chana, P.; Bustamante, M. L.; Miranda, M.; Olguin, P.; Galleguillos, B. P.; Fon, T.; Monchi, O.; Fon, E. A.; Camargos, S.; Tumas, V.; Awad, P. S.; Rieder, C.; Schumacher-Schuh, A. F.; Zimprich, A.; Koks, S.; Renteria, M. E.; Ellis, M.; Kumar, K.; Hunter, J.; Shepherd, C. E.; Tavadyan, Z.; Khachatryan, S.; Kauffman, M.; Gatto, E. M.
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study
2024 Domenighetti, C.; Sugier, P. -E.; Sreelatha, A. A. K.; Schulte, C.; Grover, S.; Portugal, B.; Lee, P. -C.; May, P.; Bobbili, D.; Blagojevic, M. R.; Lichtner, P.; Singleton, A. B.; Hernandez, D.; Edsall, C.; Mellick, G. D.; Zimprich, A. A.; Pirker, W.; Rogaeva, E. A.; Lang, A. E.; Koks, S.; Taba, P.; Lesage, S.; Brice, A.; Corvol, J. -C.; Chartier-Harlin, M. -C.; Mutez, E.; Brockmann, K.; Deutschlander, A. B.; Hadjigeorgiou, G. M.; Dardiotis, E.; Stefanis, L.; Simitsi, A. M.; Valente, E. M.; Petrucci, S.; Straniero, L.; Zecchinelli, A. L.; Pezzoli, G.; Brighina, L.; Ferrarese, C.; Annesi, G.; Quattrone, A.; Gagliardi, M.; Matsuo, H.; Nakayama, A.; Hattori, N.; Nishioka, K.; Chung, S. J.; Kim, Y. J.; Kolber, P.; Van De Warrenburg, B. P. C.; Bloem, B. R.; Toft, M.; Pihlstrom, L.; Guedes, L. C.; Ferreira, J. J.; Bardien, S.; Carr, J.; Tolosa, E.; Ezquerra, M.; Pastor, P.; Diez-Fairen, M.; Wirdefeldt, K.; Pedersen, N. L.; Ran, C.; Belin, A. C.; Puschmann, A.; Hellberg, C.; Clarke, C. E.; Morrison, K. E.; Tan, M. M.; Krainc, D.; Burbulla, L. F.; Farrer, M.; Kruger, R.; Gasser, T.; Sharma, M.; Elbaz, A.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
2024 Null, Null; Chen, Siwei; Abou-Khalil, Bassel W.; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M.; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W.; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J.; Busch, Robyn M.; Caglayan, S. Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S.; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O.; Cole, Andrew J.; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Vito, Lidia Di; Dickerson, Faith; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Ellis, Colin A.; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N.; Silva, Izabela Ferreira Da; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C.; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A.; Freri, Elena; Fu, Jack M.; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A.; Goldberg, Ethan; Goldman, Alica; Goldstein, David B.; Granata, Tiziana; Grant, Riley; Greenberg, David A.; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R.; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M.; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D.; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurlemann, Gerhard; Kuzniecky, Ruben I.; Kwan, Patrick; Vega-Talbott, Maite La; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H.; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H. T.; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G.; Matthews, Abigail G.; May, Patrick; Mayer, Thomas; Mcardle, Wendy; Mccarroll, Steven M.; Mcgoldrick, Patricia; Mcgraw, Christopher M.; Mcintosh, Andrew; Mcquillan, Andrew; Meador, Kimford J.; Mei, Davide; Michel, Véronique; Millichap, John J.; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A.; Newton, Charles R. J. C.; Noebels, Jeffrey L.; Northstone, Kate; Novod, Sam; O'Brien, Terence J.; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B.; Petrovski, Slavé; Pickrell, William O.; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H. W.; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R.; Rees, Mark I.; Regan, Brigid M.; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M.; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J.; Scheffer, Ingrid E.; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C.; Shiedley, Beth R.; Siena, S. Anthony; Sills, Graeme J.; Sisodiya, Sanjay M.; Smoller, Jordan W.; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R.; Sperling, Michael R.; Stamberger, Hannah; Steinhoff, Bernhard J.; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E.; Taneja, Randip S.; Tanteles, George A.; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G.; Watts, Nick; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M.; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M.; Berkovic, Samuel F.
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia
2024 Talarico, M.; Fortunato, F.; Labalme, A.; Januel, L.; Chatron, N.; Sanlaville, D.; Sammarra, I.; Gagliardi, M.; Procopio, R.; Valentino, P.; Annesi, G.; Lesca, G.; Gambardella, A.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
2024 Mei, Davide; Balestrini, Simona; Parrini, Elena; Gambardella, Antonio; Annesi, Grazia; De Giorgis, Valentina; Gana, Simone; Bassi, Maria Teresa; Zucca, Claudio; Elia, Maurizio; Vetri, Luigi; Castellotti, Barbara; Ragona, Francesca; Mastrangelo, Mario; Pisani, Francesco; D'Orsi, Giuseppe; Carella, Massimo; Pruna, Dario; Giglio, Sabrina; Marini, Carla; Cesaroni, Elisabetta; Riva, Antonella; Scala, Marcello; Licchetta, Laura; Minardi, Raffaella; Contaldo, Ilaria; Gambardella, Maria Luigia; Cossu, Alberto; Proietti, Jacopo; Cantalupo, Gaetano; Trivisano, Marina; De Dominicis, Angela; Specchio, Nicola; Tassi, Laura; Guerrini, Renzo
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
2024 Procopio, Radha; Fortunato, Francesco; Gagliardi, Monica; Talarico, Mariagrazia; Sammarra, Ilaria; Sarubbi, Maria Chiara; Malanga, Donatella; Annesi, Grazia; Gambardella, Antonio
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures
2024 Procopio, Radha; Gagliardi, Monica; Talarico, Mariagrazia; Fortunato, Francesco; Sammarra, Ilaria; Procopio, Anna Caterina; Roncada, Paola; Malanga, Donatella; Annesi, Grazia; Gambardella, Antonio
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene
2023 De Luca a, V; Nicoletti, G; Gagliardi, M; Procopio, R; Annesi, G
ANXA1 mutation analysis in Italian patients with early onset PD
2023 Gagliardi M; Procopio R; Talarico M; Quattrone A; Arabia G; Morelli M; D'Amelio M; Malanga D; Bonapace G; Quattrone A; Annesi G
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
2023 Vollstedt, Ej; Schaake, S; Lohmann, K; Padmanabhan, S; Brice, A; Lesage, S; Tesson, C; Vidailhet, M; Wurster, I; Hentati, F; Mirelman, A; Giladi, N; Marder, K; Waters, C; Fahn, S; Kasten, M; Bruggemann, N; Borsche, M; Foroud, T; Tolosa, E; Garrido, A; Annesi, G; Gagliardi, M; Bozi, M; Stefanis, L; Ferreira, J J; Guedes, L C; Avenali, M; Petrucci, S; Clark, L; Fedotova, E Y; Abramycheva, N Y; Alvarez, V; Menendezgonzalez, M; Maestre, S J; Gomezgarre, P; Mir, P; Belin, A C; Ran, C; Lin, Ch; Kuo, Mc; Crosiers, D; Wszolek, Z K; Ross, O A; Jankovic, J; Nishioka, K; Funayama, M; Clarimon, J; Williamsgray, C H; Camacho, M; Cornejoolivas, M; Torresramirez, L; Wu, Yr; Leechen, Gj; Morgadinho, A; Pulkes, T; Termsarasab, P; Berg, D; Kuhlenbaumer, G; Kuhn, A A; Borngraeber, F; de Michele, G; De Rosa, A; Zimprich, A; Puschmann, A; Mellick, G D; Dorszewska, J; Carr, J; Ferese, R; Gambardella, S; Chase, B; Markopoulou, K; Satake, W; Toda, T; Rossi, M; Merello, M; Lynch, T; Olszewska, D A; Lim, Sy; Ahmadannuar, A; Tan, A H; Almubarak, B; Hanagasi, H; Koziorowski, D; Ertan, S; Genc, G; Aguiar, P de Carvalho; Barkhuizen, M; Pimentel, M M G; Saunderspullman, R; van de Warrenburg, B; Bressman, S; Toft, M; Appelcresswell, S; Lang, A E; Skorvanek, M; Boon, A J W; Kruger, R; Sammler, E M; Tumas, V; Zhang, Br; Garraux, G; Chung, S J; Kim, Y J; Winkelmann, J; Sue, C M; Tan, Ek; Damasio, J; Klivenyi, P; Kostic, V S; Arkadir, D; Martikainen, M; Borges, V; Hertz, J M; Brighina, L; Spitz, M; Suchowersky, O; Riess, O; Das, P; Mollenhauer, B; Gatto, E M; Petersen, M S; Hattori, N; Wu, Rm; Illarioshkin, S N; Valente, E M; Aasly, J O; Aasly, A; Alcalay, R N; Thaler, A; Farrer, M J; Brockmann, K; Corvol, Jc; Klein, C
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
2023 Vollstedt, E. -J.; Madoev, H.; Aasly, A.; Ahmad-Annuar, A.; Al-Mubarak, B.; Alcalay, R. N.; Alvarez, V.; Amorin, I.; Annesi, G.; Arkadir, D.; Bardien, S.; Barker, R. A.; Barkhuizen, M.; Basak, A. N.; Bonifati, V.; Boon, A.; Brighina, L.; Brockmann, K.; Belin, A. C.; Carr, J.; Clarimon, J.; Cornejo-Olivas, M.; Guedes, L. C.; Corvol, J. -C.; Crosiers, D.; Damasio, J.; Das, P.; de Carvalho Aguiar, P.; De Rosa, A.; Dorszewska, J.; Ertan, S.; Ferese, R.; Ferreira, J.; Gatto, E.; Genc, G.; Giladi, N.; Gomez-Garre, P.; Hanagasi, H.; Hattori, N.; Hentati, F.; Hoffman-Zacharska, D.; Illarioshkin, S. N.; Jankovic, J.; Jesus, S.; Kaasinen, V.; Kievit, A.; Klivenyi, P.; Kostic, V.; Koziorowski, D.; Kuhn, A. A.; Lang, A. E.; Lim, S. -Y.; Lin, C. -H.; Lohmann, K.; Markovic, V.; Martikainen, M. H.; Mellick, G.; Merello, M.; Milanowski, L.; Mir, P.; Oztop-Cakmak, O.; Pimentel, M. M. G.; Pulkes, T.; Puschmann, A.; Rogaeva, E.; Sammler, E. M.; Petersen, M. S.; Skorvanek, M.; Spitz, M.; Suchowersky, O.; Tan, A. H.; Termsarasab, P.; Thaler, A.; Tumas, V.; Valente, E. M.; van de Warrenburg, B.; Williams-Gray, C. H.; Wu, R. -M.; Zhang, B.; Zimprich, A.; Solle, J.; Padmanabhan, S.; Klein, C.
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 E Motelow, pi Collaborative Joshua; Povysil, Gundula; S Dhindsa, Ryan; E Stanley, Kate; S Allen, Andrew; B Goldstein, David; Anne Feng, Yenchen; P Howrigan, Daniel; E Abbott, Liam; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; E Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; M Neale, Benjamin; F Berkovic, Samuel; Lerche, Holger; H Lowenstein, Daniel; L Cavalleri, Gianpiero; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixonsalazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; L Heinzen, Erin; Helbig, Ingo; Kwan, Patrick; G Marson, Anthony; Petrovski, Slavé; Kamalakaran, Sitharthan; M Sisodiya, Sanjay; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; J Dlugos, Dennis; E Scheffer, Ingrid; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; Mckenna, Kevin; M Regan, Brigid; A Bennett, Caitlin; L Leech, Stephanie; Leu, Costin; Lewissmith, David; J O'Brien, Terence; Todaro, Marian; Stamberger, Hannah; Depondti, Chantal; M Andrade, Danielle; Zulfiqar Ali, Quratulain; R Sadoway, Tara; Krestel, Heinz; Schaller, André; S Papacostas, Savvas; Kousiappa, Ioanna; A Tanteles, George; Yiolanda, Christou; Trbová, Katalin; Vlková, Markéta; Sedláková, Lucie; Lauthová, Petra; Martin Klein, Karl; Rosenow, Felix; S Reif, Philipp; Knake, Susanne; A Neubauer, Bernd; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva; S Kunz, Wolfram; Zsurka, Gábor; Surges, Rainer; H Baumgartner, Tobias; von Wrede, Randi; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; D Korczyn, Amos; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müllerschlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; R Lemke, Johannes; Krey, Ilona; G Weber, Yvonne; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; J Steinhoff, Bernhard; Schulzebonhage, Andreas; Borggräfe, Ingo; J Schankin, Christoph; Schubertbast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Kurlemann, Gerhard; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Annaelina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; I Rees, Mark; Chung, Seokyung; O Pickrell, William; W Powell, Robert H; D Baker, Mark; Fonferkoshadrach, Beata; Lawthom, Charlotte; Anderson, Joe; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; R Johnson, Michael; Auce, Pauls; J Sills, Graeme; Kwan, Patrick; W Baum, Larry; C Sham, Pak; S Cherny, Stacey; T Lui, Colin H; Delanty, Norman; P Doherty, Colin; Shukralla, Arif; Elnaggar, Hany; Widdesswalsh, Peter; Barii, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Stella Vari, Maria; Salpietro, Vincenzo; Scala, Marcello; Margherita Mancardi, Maria; Lino, Nobili; Amadori, Elisa; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiryzgheib, Nathalie; Tumiene, Birute; Utkus, Algirdas; G Sadleir, Lynette; King, Chontelle; Hande Caglayan, S; Arslan, Mutluay; Yapc, Zuhal; Topaloglu, Pnar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdueken, Asl; Bebek, Nerses; Uureri, Sibel; Baykan, Betül; Salman, Bar; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeim; Özkara, Çidem; Tsai, Menghan; Ho, Chenjui; Lin, Chihhsiang; Lin, Kuanglin; Chou, Ijun; Poduri, Annapurna; R Shiedley, Beth; Shain, Catherine; L Noebels, Jeffrey; Goldman, Alicia; M Busch, Robyn; Jehi, Lara; M Najm, Imad; Lal, Dennis; Ferguson, Lisa; Khoury, Jean; A Glauser, Tracy; O Clark, Peggy; J Buono, Russell; N Ferraro, Thomas; R Sperling, Michael; J Dlugos, Dennis; Lo, Warren; Privitera, Michael; A French, Jacqueline; Schachter, Steven; I Kuzniecky, Ruben; Devinsky, Orrin; Hegde, Manu; A Greenberg, David; A Ellis, Colin; Goldberg, Ethan; L Helbig, Katherine; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; C Newton, Charles R J; M Kariuki, Symon; G Wagner, Ryan; Owusuagyei, Seth; J Cole, Andrew; M McGraw, Christopher; Anthony Siena, S; Davis, Lea; Hucks, Donald; Faucon, Annika; Wu, David; W AbouKhalil, Bassel; Haas, Kevin; S Taneja, Randip
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
2023 Stevelink, R; Campbell, C; Chen, S; Aboukhalil, B; M Adesoji, O; Afawi, Z; Amadori, E; Anderson, A; Anderson, J; M Andrade, D; Annesi, G; Auce, P; Avbersek, A; Bahlo, M; D Baker, M; Balagura, G; Balestrini, S; League Against Epilepsy Consortium on Complex Epilepsies, International
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
2023 Sugier PE; Lucotte E A.; Domenighetti C; Law M H.; Iles,M M.; Brown K; Amos C; McKay J D; Hung R J.; Karimi M; BacqDaian D; BolandAuge A; Olaso R; Deleuze JF; Lesueur F; Ostroumova E; Kesminiene A; de Vathaire F; Guenel P; Sreelatha Ashwin A K; Schulte C; Grover S; May P; Bobbili D R; RadivojkovBlagojevic M; Lichtner P; Singleton A B; Hernandez D G; Edsall C; Mellick G D.; Zimprich A; Pirker W; Rogaeva E; Lang A E.; Koks S; Taba P; Lesage S; Brice A; Corvol JC; ChartierHarlin MC; Mutez E; Brockmann K; Deutschlaender A B; Hadjigeorgiou G M; Dardiotis E; Stefanis L; Simitsi A M; Valente E M; Petrucci S; Straniero L; Zecchinelli A; Pezzoli G; Brighina L; Ferrarese C; Annesi G ; Quattrone A; Gagliardi M; Matsuo H; Nakayama A; Hattori N; Nishioka K; Chung S J; Kim Yun J; Kolber P; van de Warrenburg B P C.; Bloem B R.; Aasly J; Toft M; Pihlstrom L; Guedes L C; Ferreira J J; Bardien S; Carr J; Tolosa E; Ezquerra M; PastorP; DiezFairen M; Wirdefeldt K; Pedersen N; Ran C; Belin A C; Puschmann A; Roedstroem E Y; Clarke C E; Morrison K E; Tan M; Krainc D; Burbulla L F; Farrer M J; Kruger R; Gasser T; Sharma M; Truong T; Elbaz A
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation
2022 Salsone, M; Arabia, G; Annesi, G; Gagliardi, M; Nistico, R; Novellino, F; Ferinistrambi, L; Quattrone, A; Quattrone, A
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study
2022 Domenighetti, C; Sugier, Pe; Ashok Kumar Sreelatha, A; Schulte, C; Grover, S; Mohamed, O; Portugal, B; May, P; Bobbili, Dr; Radivojkovblagojevic, M; Lichtner, P; Singleton, Ab; Hernandez, Dg; Edsall, C; Mellick, Gd; Zimprich, A; Pirker, W; Rogaeva, E; Lang, Ae; Koks, S; Taba, P; Lesage, S; Brice, A; Corvol, Jc; Chartierharlin, Mc; Mutez, E; Brockmann, K; Deutschländer, Ab; Hadjigeorgiou, Gm; Dardiotis, E; Stefanis, L; Simitsi, Am; Valente, Em; Petrucci, S; Duga, S; Straniero, L; Zecchinelli, A; Pezzoli, G; Brighina, L; Ferrarese, C; Annesi, G; Quattrone, A; Gagliardi, M; Matsuo, H; Kawamura, Y; Hattori, N; Nishioka, K; Chung, Sj; Kim, Yj; Kolber, P; van de Warrenburg, Bpc; Bloem, Br; Aasly, J; Toft, M; Pihlstrøm, L; Correia Guedes, L; Ferreira JJ Bardien, S; Carr, J; Tolosa, E; Ezquerra, M; Pastor, P; Diezfairen, M; Wirdefeldt, K; Pedersen, Nl; Ran, C; Belin, Ac; Puschmann, A; Hellberg, C; Clarke, Ce; Morrison, Ke; Tan, M; Krainc, D; Burbulla, Lf; Farrer, Mj; Krüger, R; Gasser, T; Sharma, M; Elbaz, A; Comprehensive Unbiased Risk Factor Assessment for, Genetics; Environment in Parkinson's Disease CouragePD, Consortium
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease | 1-gen-2025 | Gagliardi, M.; Morelli, M.; Arabia, G.; Procopio, R.; Felicetti, A.; D'Amelio, M.; Talarico, M.; Gambardella, A.; Quattrone, A.; Annesi, G.; Quattrone, A. | |
| Genome-wide association meta-analyses of drug-resistant epilepsy | 1-gen-2025 | Leu, C.; Avbersek, A.; Stevelink, R.; Custodio, H. M.; Chen, S.; Speed, D.; Bennett, C. A.; Jonsson, L.; Unnsteinsdottir, U.; Jorgensen, A. L.; Cavalleri, G. L.; Delanty, N.; Craig, J. J.; Depondt, C.; Johnson, M. R.; Koeleman, B. P. C.; Hassanin, E.; Omidvar, M. E.; Krause, R.; Lerche, H.; Marson, A. G.; O'Brien, T. J.; Sander, J. W.; Sills, G. J.; Striano, P.; Zara, F.; Stefansson, H.; Stefansson, K.; May, P.; Neale, B. M.; Lal, D.; Berkovic, S. F.; Amadori, E.; Andrade, D. M.; Annesi, G.; Balagura, G.; Balestrini, S.; Barba, C.; Barboza, K.; Baumgartner, T. H.; Baykan, B.; Bebek, N.; Becker, F.; Bennett, C. A.; Berkovic, S. F.; Beydoun, A.; Bisulli, F.; Borggrafe, I.; Bosselmann, C.; Busch, R. M.; Canafoglia, L.; Castellotti, B.; Chou, I. -J.; Chung, S. -K.; Cotsapas, C.; Devinsky, O.; Dlugos, D. J.; Doccini, V.; Doherty, C. P.; Ellis, C. A.; El-Naggar, H.; Evans, M.; Ferraro, T. N.; Fitzgerald, M.; Fortunato, F.; French, J. A.; Freri, E.; Gagliardi, M.; Gambardella, A.; Goldman, A.; Granata, T.; Gupta, N.; Haas, K.; Hirose, S.; Hoeper, O.; Hung, P. -C.; Johnson, M. R.; Khoueiry-Zgheib, N.; Khoury, J.; Klein, K. M.; Knake, S.; Koupparis, A.; Kousiappa, I.; Krause, R.; Kunz, W. S.; Kuzniecky, R. I.; Kwan, P.; Labate, A.; Lacey, A.; Lal, D.; Lauxmann, S.; Lawthom, C.; Lerche, H.; Leu, C.; Lewis-Smith, D.; Liao, C.; Lin, C. -H.; Lin, K. -L.; Linnankivi, T.; Lowenstein, D. H.; Lui, C. H. T.; Madia, F.; Magri, S.; Maillard, L.; Manna, L.; Marques, P.; Mayer, T.; Mcgraw, C. M.; Meador, K. J.; Mei, D.; Minardi, R.; Mostacci, B.; Muccioli, L.; Muller-Schluter, K.; Nasreddine, W.; Neale, B. M.; Neubauer, B. A.; Papacostas, S. S.; Parrini, E.; Pendziwiat, M.; Petrovski, S.; Pickrell, W. O.; Powell, R. H. W.; Ragona, F.; Rees, M. I.; Rheims, S.; Riva, A.; Rosenow, F.; Ryvlin, P.; Sadleir, L. G.; Salman, B.; Salmon, A.; Sammarra, I.; Scala, M.; Scheffer, I. E.; Schubert-Bast, S.; Schulze-Bonhage, A.; Shiedley, B. R.; Sisodiya, S. M.; Sperling, M. R.; Steinhoff, B. J.; Stephani, U.; Strzelczyk, A.; Surges, R.; Suzuki, T.; Talarico, M.; Taneja, R. S.; Tanteles, G. A.; Tsai, M. -H.; Tumiene, B.; Turkdogan, D.; Valton, L.; Van Baalen, A.; Vetro, A.; Von Wrede, R.; Wagner, R. G.; Weber, Y. G.; Weckhuysen, S.; Widdess-Walsh, P.; Wiebe, S.; Wolking, S.; Yamakawa, K.; Yapici, Z.; Zahnert, F.; Zizovic, M.; Zsurka, G.; Ali, Q. Z.; Auce, P.; Avbersek, A.; Balling, R.; Becker, F.; Berghuis, B.; Borghei, M.; Brodie, M. J.; Campbell, E.; Cavalleri, G. L.; Chinthapalli, K.; Coppola, A.; Craig, J.; Delanty, N.; Demurtas, R.; Depondt, C.; Francis, B.; Gambardella, A.; Gudmundsson, L. J.; Heggeli, K.; Hengsbach, C.; Hutton, J. L.; Ingason, A.; Johnson, M. R.; Jorgensen, A.; Klein, K. M.; Koeleman, B. P. C.; Krause, R.; Krenn, M.; Kunz, W. S.; Langley, S. R.; Lerche, H.; Leu, C.; Marson, A. G.; Mccormack, M.; Moller, R. S.; Morris, A.; Muhle, H.; Nikanorova, M.; O'Brien, T. J.; Petrovski, S.; Rau, S.; Rener-Primec, Z.; Sander, J. W.; Sargsyan, N.; Schneider, R.; Sills, G. J.; Sisodiya, S. M.; Speed, D.; Srivastava, P. K.; Stefansson, H.; Stefansson, K.; Todaro, M.; Weber, Y. G.; Weckhuysen, S.; Willis, J.; Wolking, S.; Zimprich, F.; Sisodiya, S. M. | |
| Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy | 1-gen-2025 | Gagliardi, M.; Procopio, R.; Annesi, G.; Buonocore, J.; Talarico, M.; Quattrone, A.; Quattrone, A. | |
| MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes | 1-gen-2025 | Gagliardi, M.; Procopio, R.; Felicetti, A.; Annesi, G.; Talarico, M.; Vescio, B.; Quattrone, A.; Quattrone, A. | |
| The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population | 1-gen-2025 | Lange, L. M.; Levine, K.; Fox, S. H.; Marras, C.; Ahmed, N.; Kuznetsov, N.; Vitale, D.; Iwaki, H.; Lohmann, K.; Marsili, L.; Espay, A. J.; Bauer, P.; Beetz, C.; Martin, J.; Factor, S. A.; Higginbotham, L. A.; Chen, H.; Leonard, H.; Nalls, M. A.; Mencacci, N. E.; Morris, H. R.; Singleton, A. B.; Klein, C.; Blauwendraat, C.; Fang, Z. -H.; Atadzhanov, M.; Nguyen, T.; Nguyen, D.; Koretsky, M.; Makarious, M. B.; Faghri, F.; Beach, T.; Xie, T.; Dumanis, S.; Walker, R.; Alcalay, R.; Albin, R.; Lubbe, S.; Puckelwartz, M. J.; Farrer, M.; Dean, M.; Shulman, L.; Ruffrage, L.; Chahine, L. M.; Marek, K.; Markopoulou, K.; Kieburtz, K.; Nuytemans, K.; Galvelis, K. G.; Shulman, J.; Jankovic, J.; Williamson, J.; Inca-Martinez, M.; Mata, I. F.; Serrano, G. E.; Riley, E.; Shiamim, E.; Song, Y.; Kim, J. J.; Hernandez, D.; Hall, D.; Foroud, T.; Wegel, C.; Ibanez, L.; Cruchaga, C.; Jonas, C.; Sobering, A. K.; Sherer, T.; Chowdhury, S.; Louie, N.; Kuhl, M.; Murphy, K.; Solle, J. C.; Comart, C.; Fiske, B.; Casey, B.; Siddiqi, B.; O'Grady, A.; Sarmiento, I. J. K.; Bandres-Ciga, S.; Screven, L.; Andersh, K.; Pantazis, C. B.; Stott, S.; Love, S.; Lewis, P. A.; Williams, N.; Grosset, D.; Bale, C.; Carroll, C.; Obese, V.; Jasaityte, S.; Weil, R.; Kaiyrzhanov, R.; Okunoye, O.; Wood, N.; Rizig, M.; Mok, K. Y.; Hardy, J.; Houlden, H.; Stafford, E. J.; Schapira, A.; Schrag, A.; Martinez-Carrasco, A.; Dey, S.; Noyce, A.; Genc, G.; Ertan, S.; Cakmak, O. O.; Basak, A. N.; Ben Sassi, S.; Amouri, R.; Wu, Y.; Wu, R. -M.; Wu, H. -C.; Kung, P. -J.; Lin, C. -H.; Tinkhauser, G.; Krack, P.; Zweier, C.; Brolin, K.; El-Sadig, S.; Pastor, P.; Perinan, M. T.; Beyer, K.; Hoenicka, J.; Alvarez, I.; Cubo, E.; Kim, Y. J.; Jeon, B.; Bardien, S.; Carr, J.; Amod, F.; Foo, J. N.; Tan, E. -K.; Umair, M.; Mubarak, B. A.; Iakovenko, E.; Vinuela, A.; Rosales, R.; Doquenia, M. L.; Cornejo-Olivas, M.; Ur-Rehman, S.; Tan, M.; Pihlstrom, L.; Aasly, J. O.; Ojo, O.; Okubadejo, N.; Sanyaolu, A.; Pitcher, T. L.; Anderson, T. J.; Ojha, R.; Tserensodnom, B.; Reyes-Perez, P.; Rodriguez-Violante, M.; Martinez-Ramirez, D.; Mohamed, W.; Azmin, S.; Murad, N. A. A.; Norlinah, M. I.; Tay, Y. W.; Lim, S. -Y.; Ahmad-Annuar, A.; Tan, A. H.; Kruger, R.; Shambetova, C.; Kaishibayeva, G.; Karimova, A.; Shiraishi, T.; Hattori, N.; Funayama, M.; Schirinzi, T.; Parnetti, L.; Annesi, G.; Avenali, M.; Valente, E. M.; Gagliardi, M.; Quattrone, A.; Salari, M.; Borgohain, R.; Rajan, R.; Kukkle, P. L.; Pal, P.; Kp, D.; Kishore, A.; Zhou, X.; Chan, P.; Ip, N.; Cheung, N. Y. -F.; Chan, G. H. -F.; Medina, A.; Stamelou, M.; Stefanis, L.; Tarnanas, I.; Dagklis, I.; Dadiotis, E.; Hadjigorgiou, G.; Xiromerisiou, G.; Akpalu, A.; Groppa, S.; Gasser, T.; Sharma, M.; Hoglinger, G.; Hopfner, F.; Mollenhauer, B.; Illarionova, A.; Junker, J.; Trinh, J.; Madoev, H.; Vollstedt, E. -J.; Westenberger, A.; Corvol, J. -C.; Brice, A.; Zewde, Y. Z.; Kamel, W. A.; Salama, M.; Hernandez, A.; Del Rio, M. J.; Orozco, J.; Arboleda, G.; Luo, W.; Chan, P.; Guo, J.; Shang, H.; Tang, B.; Chana, P.; Bustamante, M. L.; Miranda, M.; Olguin, P.; Galleguillos, B. P.; Fon, T.; Monchi, O.; Fon, E. A.; Camargos, S.; Tumas, V.; Awad, P. S.; Rieder, C.; Schumacher-Schuh, A. F.; Zimprich, A.; Koks, S.; Renteria, M. E.; Ellis, M.; Kumar, K.; Hunter, J.; Shepherd, C. E.; Tavadyan, Z.; Khachatryan, S.; Kauffman, M.; Gatto, E. M. | |
| Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study | 1-gen-2024 | Domenighetti, C.; Sugier, P. -E.; Sreelatha, A. A. K.; Schulte, C.; Grover, S.; Portugal, B.; Lee, P. -C.; May, P.; Bobbili, D.; Blagojevic, M. R.; Lichtner, P.; Singleton, A. B.; Hernandez, D.; Edsall, C.; Mellick, G. D.; Zimprich, A. A.; Pirker, W.; Rogaeva, E. A.; Lang, A. E.; Koks, S.; Taba, P.; Lesage, S.; Brice, A.; Corvol, J. -C.; Chartier-Harlin, M. -C.; Mutez, E.; Brockmann, K.; Deutschlander, A. B.; Hadjigeorgiou, G. M.; Dardiotis, E.; Stefanis, L.; Simitsi, A. M.; Valente, E. M.; Petrucci, S.; Straniero, L.; Zecchinelli, A. L.; Pezzoli, G.; Brighina, L.; Ferrarese, C.; Annesi, G.; Quattrone, A.; Gagliardi, M.; Matsuo, H.; Nakayama, A.; Hattori, N.; Nishioka, K.; Chung, S. J.; Kim, Y. J.; Kolber, P.; Van De Warrenburg, B. P. C.; Bloem, B. R.; Toft, M.; Pihlstrom, L.; Guedes, L. C.; Ferreira, J. J.; Bardien, S.; Carr, J.; Tolosa, E.; Ezquerra, M.; Pastor, P.; Diez-Fairen, M.; Wirdefeldt, K.; Pedersen, N. L.; Ran, C.; Belin, A. C.; Puschmann, A.; Hellberg, C.; Clarke, C. E.; Morrison, K. E.; Tan, M. M.; Krainc, D.; Burbulla, L. F.; Farrer, M.; Kruger, R.; Gasser, T.; Sharma, M.; Elbaz, A. | |
| Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes | 1-gen-2024 | Null, Null; Chen, Siwei; Abou-Khalil, Bassel W.; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M.; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W.; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J.; Busch, Robyn M.; Caglayan, S. Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S.; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O.; Cole, Andrew J.; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Vito, Lidia Di; Dickerson, Faith; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Ellis, Colin A.; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N.; Silva, Izabela Ferreira Da; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C.; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A.; Freri, Elena; Fu, Jack M.; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A.; Goldberg, Ethan; Goldman, Alica; Goldstein, David B.; Granata, Tiziana; Grant, Riley; Greenberg, David A.; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R.; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M.; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D.; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurlemann, Gerhard; Kuzniecky, Ruben I.; Kwan, Patrick; Vega-Talbott, Maite La; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H.; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H. T.; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G.; Matthews, Abigail G.; May, Patrick; Mayer, Thomas; Mcardle, Wendy; Mccarroll, Steven M.; Mcgoldrick, Patricia; Mcgraw, Christopher M.; Mcintosh, Andrew; Mcquillan, Andrew; Meador, Kimford J.; Mei, Davide; Michel, Véronique; Millichap, John J.; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A.; Newton, Charles R. J. C.; Noebels, Jeffrey L.; Northstone, Kate; Novod, Sam; O'Brien, Terence J.; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B.; Petrovski, Slavé; Pickrell, William O.; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H. W.; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R.; Rees, Mark I.; Regan, Brigid M.; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M.; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J.; Scheffer, Ingrid E.; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C.; Shiedley, Beth R.; Siena, S. Anthony; Sills, Graeme J.; Sisodiya, Sanjay M.; Smoller, Jordan W.; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R.; Sperling, Michael R.; Stamberger, Hannah; Steinhoff, Bernhard J.; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E.; Taneja, Randip S.; Tanteles, George A.; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G.; Watts, Nick; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M.; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M.; Berkovic, Samuel F. | |
| Idiopathic generalized epilepsy in a family with SCN4A-related myotonia | 1-gen-2024 | Talarico, M.; Fortunato, F.; Labalme, A.; Januel, L.; Chatron, N.; Sanlaville, D.; Sammarra, I.; Gagliardi, M.; Procopio, R.; Valentino, P.; Annesi, G.; Lesca, G.; Gambardella, A. | |
| National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy | 1-gen-2024 | Mei, Davide; Balestrini, Simona; Parrini, Elena; Gambardella, Antonio; Annesi, Grazia; De Giorgis, Valentina; Gana, Simone; Bassi, Maria Teresa; Zucca, Claudio; Elia, Maurizio; Vetri, Luigi; Castellotti, Barbara; Ragona, Francesca; Mastrangelo, Mario; Pisani, Francesco; D'Orsi, Giuseppe; Carella, Massimo; Pruna, Dario; Giglio, Sabrina; Marini, Carla; Cesaroni, Elisabetta; Riva, Antonella; Scala, Marcello; Licchetta, Laura; Minardi, Raffaella; Contaldo, Ilaria; Gambardella, Maria Luigia; Cossu, Alberto; Proietti, Jacopo; Cantalupo, Gaetano; Trivisano, Marina; De Dominicis, Angela; Specchio, Nicola; Tassi, Laura; Guerrini, Renzo | |
| Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia | 1-gen-2024 | Procopio, Radha; Fortunato, Francesco; Gagliardi, Monica; Talarico, Mariagrazia; Sammarra, Ilaria; Sarubbi, Maria Chiara; Malanga, Donatella; Annesi, Grazia; Gambardella, Antonio | |
| Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures | 1-gen-2024 | Procopio, Radha; Gagliardi, Monica; Talarico, Mariagrazia; Fortunato, Francesco; Sammarra, Ilaria; Procopio, Anna Caterina; Roncada, Paola; Malanga, Donatella; Annesi, Grazia; Gambardella, Antonio | |
| Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene | 1-gen-2023 | De Luca a, V; Nicoletti, G; Gagliardi, M; Procopio, R; Annesi, G | |
| ANXA1 mutation analysis in Italian patients with early onset PD | 1-gen-2023 | Gagliardi M; Procopio R; Talarico M; Quattrone A; Arabia G; Morelli M; D'Amelio M; Malanga D; Bonapace G; Quattrone A; Annesi G | |
| Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort | 1-gen-2023 | Vollstedt, Ej; Schaake, S; Lohmann, K; Padmanabhan, S; Brice, A; Lesage, S; Tesson, C; Vidailhet, M; Wurster, I; Hentati, F; Mirelman, A; Giladi, N; Marder, K; Waters, C; Fahn, S; Kasten, M; Bruggemann, N; Borsche, M; Foroud, T; Tolosa, E; Garrido, A; Annesi, G; Gagliardi, M; Bozi, M; Stefanis, L; Ferreira, J J; Guedes, L C; Avenali, M; Petrucci, S; Clark, L; Fedotova, E Y; Abramycheva, N Y; Alvarez, V; Menendezgonzalez, M; Maestre, S J; Gomezgarre, P; Mir, P; Belin, A C; Ran, C; Lin, Ch; Kuo, Mc; Crosiers, D; Wszolek, Z K; Ross, O A; Jankovic, J; Nishioka, K; Funayama, M; Clarimon, J; Williamsgray, C H; Camacho, M; Cornejoolivas, M; Torresramirez, L; Wu, Yr; Leechen, Gj; Morgadinho, A; Pulkes, T; Termsarasab, P; Berg, D; Kuhlenbaumer, G; Kuhn, A A; Borngraeber, F; de Michele, G; De Rosa, A; Zimprich, A; Puschmann, A; Mellick, G D; Dorszewska, J; Carr, J; Ferese, R; Gambardella, S; Chase, B; Markopoulou, K; Satake, W; Toda, T; Rossi, M; Merello, M; Lynch, T; Olszewska, D A; Lim, Sy; Ahmadannuar, A; Tan, A H; Almubarak, B; Hanagasi, H; Koziorowski, D; Ertan, S; Genc, G; Aguiar, P de Carvalho; Barkhuizen, M; Pimentel, M M G; Saunderspullman, R; van de Warrenburg, B; Bressman, S; Toft, M; Appelcresswell, S; Lang, A E; Skorvanek, M; Boon, A J W; Kruger, R; Sammler, E M; Tumas, V; Zhang, Br; Garraux, G; Chung, S J; Kim, Y J; Winkelmann, J; Sue, C M; Tan, Ek; Damasio, J; Klivenyi, P; Kostic, V S; Arkadir, D; Martikainen, M; Borges, V; Hertz, J M; Brighina, L; Spitz, M; Suchowersky, O; Riess, O; Das, P; Mollenhauer, B; Gatto, E M; Petersen, M S; Hattori, N; Wu, Rm; Illarioshkin, S N; Valente, E M; Aasly, J O; Aasly, A; Alcalay, R N; Thaler, A; Farrer, M J; Brockmann, K; Corvol, Jc; Klein, C | |
| Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project | 1-gen-2023 | Vollstedt, E. -J.; Madoev, H.; Aasly, A.; Ahmad-Annuar, A.; Al-Mubarak, B.; Alcalay, R. N.; Alvarez, V.; Amorin, I.; Annesi, G.; Arkadir, D.; Bardien, S.; Barker, R. A.; Barkhuizen, M.; Basak, A. N.; Bonifati, V.; Boon, A.; Brighina, L.; Brockmann, K.; Belin, A. C.; Carr, J.; Clarimon, J.; Cornejo-Olivas, M.; Guedes, L. C.; Corvol, J. -C.; Crosiers, D.; Damasio, J.; Das, P.; de Carvalho Aguiar, P.; De Rosa, A.; Dorszewska, J.; Ertan, S.; Ferese, R.; Ferreira, J.; Gatto, E.; Genc, G.; Giladi, N.; Gomez-Garre, P.; Hanagasi, H.; Hattori, N.; Hentati, F.; Hoffman-Zacharska, D.; Illarioshkin, S. N.; Jankovic, J.; Jesus, S.; Kaasinen, V.; Kievit, A.; Klivenyi, P.; Kostic, V.; Koziorowski, D.; Kuhn, A. A.; Lang, A. E.; Lim, S. -Y.; Lin, C. -H.; Lohmann, K.; Markovic, V.; Martikainen, M. H.; Mellick, G.; Merello, M.; Milanowski, L.; Mir, P.; Oztop-Cakmak, O.; Pimentel, M. M. G.; Pulkes, T.; Puschmann, A.; Rogaeva, E.; Sammler, E. M.; Petersen, M. S.; Skorvanek, M.; Spitz, M.; Suchowersky, O.; Tan, A. H.; Termsarasab, P.; Thaler, A.; Tumas, V.; Valente, E. M.; van de Warrenburg, B.; Williams-Gray, C. H.; Wu, R. -M.; Zhang, B.; Zimprich, A.; Solle, J.; Padmanabhan, S.; Klein, C. | |
| Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals | 1-gen-2023 | E Motelow, pi Collaborative Joshua; Povysil, Gundula; S Dhindsa, Ryan; E Stanley, Kate; S Allen, Andrew; B Goldstein, David; Anne Feng, Yenchen; P Howrigan, Daniel; E Abbott, Liam; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; E Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; M Neale, Benjamin; F Berkovic, Samuel; Lerche, Holger; H Lowenstein, Daniel; L Cavalleri, Gianpiero; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixonsalazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; L Heinzen, Erin; Helbig, Ingo; Kwan, Patrick; G Marson, Anthony; Petrovski, Slavé; Kamalakaran, Sitharthan; M Sisodiya, Sanjay; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; J Dlugos, Dennis; E Scheffer, Ingrid; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; Mckenna, Kevin; M Regan, Brigid; A Bennett, Caitlin; L Leech, Stephanie; Leu, Costin; Lewissmith, David; J O'Brien, Terence; Todaro, Marian; Stamberger, Hannah; Depondti, Chantal; M Andrade, Danielle; Zulfiqar Ali, Quratulain; R Sadoway, Tara; Krestel, Heinz; Schaller, André; S Papacostas, Savvas; Kousiappa, Ioanna; A Tanteles, George; Yiolanda, Christou; Trbová, Katalin; Vlková, Markéta; Sedláková, Lucie; Lauthová, Petra; Martin Klein, Karl; Rosenow, Felix; S Reif, Philipp; Knake, Susanne; A Neubauer, Bernd; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva; S Kunz, Wolfram; Zsurka, Gábor; Surges, Rainer; H Baumgartner, Tobias; von Wrede, Randi; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; D Korczyn, Amos; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müllerschlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; R Lemke, Johannes; Krey, Ilona; G Weber, Yvonne; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; J Steinhoff, Bernhard; Schulzebonhage, Andreas; Borggräfe, Ingo; J Schankin, Christoph; Schubertbast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Kurlemann, Gerhard; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Annaelina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; I Rees, Mark; Chung, Seokyung; O Pickrell, William; W Powell, Robert H; D Baker, Mark; Fonferkoshadrach, Beata; Lawthom, Charlotte; Anderson, Joe; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; R Johnson, Michael; Auce, Pauls; J Sills, Graeme; Kwan, Patrick; W Baum, Larry; C Sham, Pak; S Cherny, Stacey; T Lui, Colin H; Delanty, Norman; P Doherty, Colin; Shukralla, Arif; Elnaggar, Hany; Widdesswalsh, Peter; Barii, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Stella Vari, Maria; Salpietro, Vincenzo; Scala, Marcello; Margherita Mancardi, Maria; Lino, Nobili; Amadori, Elisa; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiryzgheib, Nathalie; Tumiene, Birute; Utkus, Algirdas; G Sadleir, Lynette; King, Chontelle; Hande Caglayan, S; Arslan, Mutluay; Yapc, Zuhal; Topaloglu, Pnar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdueken, Asl; Bebek, Nerses; Uureri, Sibel; Baykan, Betül; Salman, Bar; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeim; Özkara, Çidem; Tsai, Menghan; Ho, Chenjui; Lin, Chihhsiang; Lin, Kuanglin; Chou, Ijun; Poduri, Annapurna; R Shiedley, Beth; Shain, Catherine; L Noebels, Jeffrey; Goldman, Alicia; M Busch, Robyn; Jehi, Lara; M Najm, Imad; Lal, Dennis; Ferguson, Lisa; Khoury, Jean; A Glauser, Tracy; O Clark, Peggy; J Buono, Russell; N Ferraro, Thomas; R Sperling, Michael; J Dlugos, Dennis; Lo, Warren; Privitera, Michael; A French, Jacqueline; Schachter, Steven; I Kuzniecky, Ruben; Devinsky, Orrin; Hegde, Manu; A Greenberg, David; A Ellis, Colin; Goldberg, Ethan; L Helbig, Katherine; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; C Newton, Charles R J; M Kariuki, Symon; G Wagner, Ryan; Owusuagyei, Seth; J Cole, Andrew; M McGraw, Christopher; Anthony Siena, S; Davis, Lea; Hucks, Donald; Faucon, Annika; Wu, David; W AbouKhalil, Bassel; Haas, Kevin; S Taneja, Randip | |
| GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture | 1-gen-2023 | Stevelink, R; Campbell, C; Chen, S; Aboukhalil, B; M Adesoji, O; Afawi, Z; Amadori, E; Anderson, A; Anderson, J; M Andrade, D; Annesi, G; Auce, P; Avbersek, A; Bahlo, M; D Baker, M; Balagura, G; Balestrini, S; League Against Epilepsy Consortium on Complex Epilepsies, International | |
| Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers | 1-gen-2023 | Sugier PE; Lucotte E A.; Domenighetti C; Law M H.; Iles,M M.; Brown K; Amos C; McKay J D; Hung R J.; Karimi M; BacqDaian D; BolandAuge A; Olaso R; Deleuze JF; Lesueur F; Ostroumova E; Kesminiene A; de Vathaire F; Guenel P; Sreelatha Ashwin A K; Schulte C; Grover S; May P; Bobbili D R; RadivojkovBlagojevic M; Lichtner P; Singleton A B; Hernandez D G; Edsall C; Mellick G D.; Zimprich A; Pirker W; Rogaeva E; Lang A E.; Koks S; Taba P; Lesage S; Brice A; Corvol JC; ChartierHarlin MC; Mutez E; Brockmann K; Deutschlaender A B; Hadjigeorgiou G M; Dardiotis E; Stefanis L; Simitsi A M; Valente E M; Petrucci S; Straniero L; Zecchinelli A; Pezzoli G; Brighina L; Ferrarese C; Annesi G ; Quattrone A; Gagliardi M; Matsuo H; Nakayama A; Hattori N; Nishioka K; Chung S J; Kim Yun J; Kolber P; van de Warrenburg B P C.; Bloem B R.; Aasly J; Toft M; Pihlstrom L; Guedes L C; Ferreira J J; Bardien S; Carr J; Tolosa E; Ezquerra M; PastorP; DiezFairen M; Wirdefeldt K; Pedersen N; Ran C; Belin A C; Puschmann A; Roedstroem E Y; Clarke C E; Morrison K E; Tan M; Krainc D; Burbulla L F; Farrer M J; Kruger R; Gasser T; Sharma M; Truong T; Elbaz A | |
| Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation | 1-gen-2022 | Salsone, M; Arabia, G; Annesi, G; Gagliardi, M; Nistico, R; Novellino, F; Ferinistrambi, L; Quattrone, A; Quattrone, A | |
| Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study | 1-gen-2022 | Domenighetti, C; Sugier, Pe; Ashok Kumar Sreelatha, A; Schulte, C; Grover, S; Mohamed, O; Portugal, B; May, P; Bobbili, Dr; Radivojkovblagojevic, M; Lichtner, P; Singleton, Ab; Hernandez, Dg; Edsall, C; Mellick, Gd; Zimprich, A; Pirker, W; Rogaeva, E; Lang, Ae; Koks, S; Taba, P; Lesage, S; Brice, A; Corvol, Jc; Chartierharlin, Mc; Mutez, E; Brockmann, K; Deutschländer, Ab; Hadjigeorgiou, Gm; Dardiotis, E; Stefanis, L; Simitsi, Am; Valente, Em; Petrucci, S; Duga, S; Straniero, L; Zecchinelli, A; Pezzoli, G; Brighina, L; Ferrarese, C; Annesi, G; Quattrone, A; Gagliardi, M; Matsuo, H; Kawamura, Y; Hattori, N; Nishioka, K; Chung, Sj; Kim, Yj; Kolber, P; van de Warrenburg, Bpc; Bloem, Br; Aasly, J; Toft, M; Pihlstrøm, L; Correia Guedes, L; Ferreira JJ Bardien, S; Carr, J; Tolosa, E; Ezquerra, M; Pastor, P; Diezfairen, M; Wirdefeldt, K; Pedersen, Nl; Ran, C; Belin, Ac; Puschmann, A; Hellberg, C; Clarke, Ce; Morrison, Ke; Tan, M; Krainc, D; Burbulla, Lf; Farrer, Mj; Krüger, R; Gasser, T; Sharma, M; Elbaz, A; Comprehensive Unbiased Risk Factor Assessment for, Genetics; Environment in Parkinson's Disease CouragePD, Consortium |