日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

CAPN6基因变异与神经发育障碍之间可能存在关联

Calì, Francesco; Treccarichi, Simone; Vinci, Mirella; Avola, Emanuela; Musumeci, Antonino; Ragalmuto, Alda; Costanza, Carola; Greco, Donatella; Brancato, Desiree; Federico, Concetta; Città, Santina; Di Blasi, Francesco Domenico; Saccone, Salvatore; Scudieri, Paolo; Zara, Federico; Elia, Maurizio

CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.

CACNA1A 功能丧失会影响人类 iPSC 衍生神经模型中的神经发生

Musante Ilaria, Cangelosi Davide, Muzzi Lorenzo, Jaudon Fanny, Di Duca Marco, Guerrisi Sara, Antonini Francesca, De Spelorzi Yeraldin Chiquinquira Castillo, Cingolani Lorenzo A, Zara Federico, Scudieri Paolo

Alternative splicing regulates PACC1 function and promotes acidosis-induced cytotoxicity.

选择性剪接调节 PACC1 功能并促进酸中毒诱导的细胞毒性。

Tamburro Serena, Gorrieri Giulia, Callegari Niccolò, Guida Floriana, Antonini Francesca, Musante Ilaria, Baldassari Simona, Zara Federico, Scudieri Paolo

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

对 20979 名癫痫患者的外显子组测序揭示了不同疾病亚型之间共同的和独特的超罕见遗传风险

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; Di Vito, Lidia; 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; Da Silva, Izabela Ferreira; 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; La Vega-Talbott, Maite; 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

ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases

ATP12A质子泵作为囊性纤维化和其他呼吸系统疾病的新兴治疗靶点

Dębczyński, Michał; Gorrieri, Giulia; Mojsak, Damian; Guida, Floriana; Zara, Federico; Scudieri, Paolo

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

NF1基因体细胞双重失活与NF1相关漏斗胸畸形

Chelleri, Cristina; Scala, Marcello; De Marco, Patrizia; Guerriero, Vittorio; Ognibene, Marzia; Madia, Francesca; Guerrisi, Sara; Di Duca, Marco; Torre, Michele; Tamburro, Serena; Scudieri, Paolo; Piccolo, Gianluca; Mattioli, Girolamo; Buffelli, Francesca; Uva, Paolo; Vozzi, Diego; Fulcheri, Ezio; Striano, Pasquale; Diana, Maria Cristina; Zara, Federico

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

携带KCNC2致病变异的癫痫患者的表型、遗传和功能特征谱

Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B S; Augustijn, Paul B; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J; Bruria, Ben Zeev; Doyle, Michael G; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne

SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease

SLC26A9作为囊性纤维化肺病的潜在修饰因子和治疗靶点

Gorrieri, Giulia; Zara, Federico; Scudieri, Paolo

Epilepsy Course and Developmental Trajectories in STXBP1-DEE

STXBP1-DEE 患者的癫痫病程和发展轨迹

Balagura, Ganna; Xian, Julie; Riva, Antonella; Marchese, Francesca; Ben Zeev, Bruria; Rios, Loreto; Sirsi, Deepa; Accorsi, Patrizia; Amadori, Elisabetta; Astrea, Guja; Baldassari, Simona; Beccaria, Francesca; Boni, Antonella; Budetta, Mauro; Cantalupo, Gaetano; Capovilla, Giuseppe; Cesaroni, Elisabetta; Chiesa, Valentina; Coppola, Antonietta; Dilena, Robertino; Faggioli, Raffaella; Ferrari, Annarita; Fiorini, Elena; Madia, Francesca; Gennaro, Elena; Giacomini, Thea; Giordano, Lucio; Iacomino, Michele; Lattanzi, Simona; Marini, Carla; Mancardi, Maria Margherita; Mastrangelo, Massimo; Messana, Tullio; Minetti, Carlo; Nobili, Lino; Papa, Amanda; Parmeggiani, Antonia; Pisano, Tiziana; Russo, Angelo; Salpietro, Vincenzo; Savasta, Salvatore; Scala, Marcello; Accogli, Andrea; Scelsa, Barbara; Scudieri, Paolo; Spalice, Alberto; Specchio, Nicola; Trivisano, Marina; Tzadok, Michal; Valeriani, Massimiliano; Vari, Maria Stella; Verrotti, Alberto; Vigevano, Federico; Vignoli, Aglaia; Toonen, Ruud; Zara, Federico; Helbig, Ingo; Striano, Pasquale

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

从头产生的截短型 NOVA2 变体影响选择性剪接,导致异质性神经发育表型

Scala Marcello, Drouot Nathalie, MacLennan Suzanna C, Wessels Marja W, Krygier Magdalena, Pavinato Lisa, Telegrafi Aida, de Man Stella A, van Slegtenhorst Marjon, Iacomino Michele, Madia Francesca, Scudieri Paolo, Uva Paolo, Giacomini Thea, Nobile Giulia, Mancardi Maria Margherita, Balagura Ganna, Galloni Giovanni Battista, Verrotti Alberto, Umair Muhammad, Khan Amjad, Liebelt Jan, Schmidts Miriam, Langer Thorsten, Brusco Alfredo, Lipska-Ziętkiewicz Beata S, Saris Jasper J, Charlet-Berguerand Nicolas, Zara Federico, Striano Pasquale, Piton Amélie