TALARICO, MARIAGRAZIA
TALARICO, MARIAGRAZIA
A novel phenotype in an Italian family with a rare progranulin mutation
2022-01-01 Russillo, M. C.; Sorrentino, C.; Scarpa, A.; Vinciguerra, C.; Cicarelli, G.; Cuoco, S.; Gagliardi, M.; Talarico, M.; Procopio, R.; Quattrone, A.; Barone, P.; Pellecchia, M. T.
ANXA1 mutation analysis in Italian patients with early onset PD
2023-01-01 Gagliardi, M.; Procopio, R.; Talarico, M.; Quattrone, A.; Arabia, G.; Morelli, M.; D'Amelio, M.; Malanga, D.; Bonapace, G.; Quattrone, A.; Annesi, G.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
2024-01-01 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.
Genome-wide association meta-analyses of drug-resistant epilepsy
2025-01-01 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.; Striano, P.; 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.; Zara, 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.; Striano, P.; Todaro, M.; Weber, Y. G.; Weckhuysen, S.; Willis, J.; Wolking, S.; Zara, F.; Zimprich, F.; Sisodiya, S. M.
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy
2025-01-01 Gagliardi, Monica; Procopio, Radha; Annesi, Grazia; Buonocore, Jolanda; Talarico, Mariagrazia; Quattrone, Aldo; Quattrone, Andrea
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia
2024-01-01 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.
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery
2025-01-01 Parrotta, E. I.; Lucchino, V.; Zannino, C.; Valente, D.; Scalise, S.; Bressan, D.; Benedetto, G. L.; Iazzetta, M. R.; Talarico, M.; Gagliardi, M.; Conforti, F.; Di Agostino, S.; Fiorenzano, A.; Quattrone, A.; Cuda, G.; Quattrone, A.
Neuronally Derived Extracellular Vesicles’ Oligomeric and p129-α-Synuclein Levels for Differentiation of Parkinson’s Disease from Essential Tremor
2025-01-01 Cristiani, C. M.; Mimmi, S.; Parrotta, E. I.; Talarico, M.; Tolomeo, A. M.; Pingitore, E.; Fatima, K.; Vescio, B.; Scaramuzzino, L.; Crapella, V.; Zimbo, A. M.; Iaccino, E.; Cuda, G.; Quattrone, A.; Quattrone, A.
Neuronally-Derived Extracellular Vesicles Transforming Growth Factor Beta-1 Levels in Progressive Supranuclear Palsy
2025-01-01 Mimmi, S.; Parrotta, E. I.; Tolomeo, A. M.; Maisano, D.; Crapella, V.; Pingitore, E.; Fatima, K.; Zimbo, A. M.; Talarico, M.; Cristiani, C. M.; Scaramuzzino, L.; Valente, D.; Zannino, C.; Cuda, G.; Quattrone, A.; Iaccino, E.; Quattrone, A.
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
2024-01-01 Procopio, Radha; Fortunato, Francesco; Gagliardi, Monica; Talarico, Mariagrazia; Sammarra, Ilaria; Sarubbi, Maria Chiara; Malanga, Donatella; Annesi, Grazia; Gambardella, Antonio
Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures
2025-01-01 Scalise, Stefania; Gaeta, Alessandro; Aprigliano, Elio; Lucchino, Valeria; Covello, Raffaele; Talarico, Mariagrazia; Puccio, Barbara; Guzzi, Pietro Hiram; Veltri, Pierangelo; Gambardella, Antonio; Lissner, Lilian Juliana; Morano, Alessandra; Cifelli, Pierangelo; Alfano, Veronica; Palma, Eleonora; Perozziello, Gerardo; Ruffolo, Gabriele; Cuda, Giovanni; Parrotta, Elvira Immacolata
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures
2024-01-01 Procopio, R.; Gagliardi, M.; Talarico, M.; Fortunato, F.; Sammarra, I.; Procopio, A. C.; Roncada, P.; Malanga, D.; Annesi, G.; Gambardella, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel phenotype in an Italian family with a rare progranulin mutation | 1-gen-2022 | Russillo, M. C.; Sorrentino, C.; Scarpa, A.; Vinciguerra, C.; Cicarelli, G.; Cuoco, S.; Gagliardi, M.; Talarico, M.; Procopio, R.; Quattrone, A.; Barone, P.; Pellecchia, M. T. | |
| 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. | |
| Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes | 1-gen-2024 | 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. | |
| 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.; Striano, P.; 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.; Zara, 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.; Striano, P.; Todaro, M.; Weber, Y. G.; Weckhuysen, S.; Willis, J.; Wolking, S.; Zara, F.; Zimprich, F.; Sisodiya, S. M. | |
| Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy | 1-gen-2025 | Gagliardi, Monica; Procopio, Radha; Annesi, Grazia; Buonocore, Jolanda; Talarico, Mariagrazia; Quattrone, Aldo; Quattrone, Andrea | |
| 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. | |
| Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery | 1-gen-2025 | Parrotta, E. I.; Lucchino, V.; Zannino, C.; Valente, D.; Scalise, S.; Bressan, D.; Benedetto, G. L.; Iazzetta, M. R.; Talarico, M.; Gagliardi, M.; Conforti, F.; Di Agostino, S.; Fiorenzano, A.; Quattrone, A.; Cuda, G.; Quattrone, A. | |
| Neuronally Derived Extracellular Vesicles’ Oligomeric and p129-α-Synuclein Levels for Differentiation of Parkinson’s Disease from Essential Tremor | 1-gen-2025 | Cristiani, C. M.; Mimmi, S.; Parrotta, E. I.; Talarico, M.; Tolomeo, A. M.; Pingitore, E.; Fatima, K.; Vescio, B.; Scaramuzzino, L.; Crapella, V.; Zimbo, A. M.; Iaccino, E.; Cuda, G.; Quattrone, A.; Quattrone, A. | |
| Neuronally-Derived Extracellular Vesicles Transforming Growth Factor Beta-1 Levels in Progressive Supranuclear Palsy | 1-gen-2025 | Mimmi, S.; Parrotta, E. I.; Tolomeo, A. M.; Maisano, D.; Crapella, V.; Pingitore, E.; Fatima, K.; Zimbo, A. M.; Talarico, M.; Cristiani, C. M.; Scaramuzzino, L.; Valente, D.; Zannino, C.; Cuda, G.; Quattrone, A.; Iaccino, E.; Quattrone, A. | |
| 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 | |
| Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures | 1-gen-2025 | Scalise, Stefania; Gaeta, Alessandro; Aprigliano, Elio; Lucchino, Valeria; Covello, Raffaele; Talarico, Mariagrazia; Puccio, Barbara; Guzzi, Pietro Hiram; Veltri, Pierangelo; Gambardella, Antonio; Lissner, Lilian Juliana; Morano, Alessandra; Cifelli, Pierangelo; Alfano, Veronica; Palma, Eleonora; Perozziello, Gerardo; Ruffolo, Gabriele; Cuda, Giovanni; Parrotta, Elvira Immacolata | |
| Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures | 1-gen-2024 | Procopio, R.; Gagliardi, M.; Talarico, M.; Fortunato, F.; Sammarra, I.; Procopio, A. C.; Roncada, P.; Malanga, D.; Annesi, G.; Gambardella, A. |