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

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

FLVCR2 功能减弱变异体导致中度转运缺陷,引起脑积水综合征伴脑钙化。

Scala, Marcello; Leong, Nancy C P; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N

Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

对与早期婴儿发育和癫痫性脑病相关的SCN2A新生混合变异进行功能表征。

Corradi Anna, Riva Antonella, Sterlini Bruno, Morinelli Lisastella, Ludovico Alessandra, Madia Francesca, Striano Pasquale, Albini Martina, Vitale Paola, Pusch Michael, Lombardo Giulia, Elia Maurizio, Chatron Nicolas, Lesca Gaetan, Zara Federico, Falsaperla Raffaele, Ferrera Loretta

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain

孤立性失神癫痫与F-box结构域中新发的FBXW7错义变异相关

Muhammad, Anees; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Madia, Francesca; Mancardi, Maria Margherita; Fornarino, Stefania; Bosisio, Luca; Tavassol, Zahra Hoseini; Omrani, Mir Davood; Zara, Federico; Scala, Marcello

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

与脑小血管病和脑畸形相关的双等位基因COL4A2变异

Muhammad, Anees; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Khorasanian, Reihaneh; Severino, Mariasavina; Doustmohammadi, Morteza; Madia, Francesca; Srivastava, Siddharth; Quinlan, Aisling; Paladini, Dario; Zara, Federico; Scala, Marcello

The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy

TNNT3 疾病谱的演变:从远端关节挛缩症到先天性肌病

Altin, Nami; Mamchaoui, Kamel; Ohana, Jessica; Bigot, Anne; Corradi, Beatrice; Maragliano, Luca; Madia, Francesca; Ognibene, Marzia; Nosrati, Mohammad Sadegh Shams; Paladini, Dario; Iacomino, Michele; Rashid, Asma; Bodamer, Olaf; Quijano-Roy, Susana; Punetha, Jaya; Capra, Valeria; Zara, Federico; Trollet, Capucine; Scala, Marcello

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

对 PIEZO2 中一种新的内含子变异在隐性远端关节挛缩症伴本体感觉和触觉障碍 (DAIPT) 中的功能表征

Bellardita Michela, Romano Ferruccio, Menta Ludovica, Da Silva Joana Soraia Martinheira, Ognibene Marzia, Baldassari Simona, Di Duca Marco, Panicucci Chiara, Baratto Serena, Brolatti Noemi, Pedemonte Marina, Fiorillo Chiara, Bruno Claudio, Scala Marcello, Zara Federico, Faravelli Francesca, Madia Francesca, Cappato Serena, Bocciardi Renata, Capra Valeria

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

KCND1变异体与X连锁神经发育障碍的病因学关联,该障碍具有可变表达性

Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E H; van Jaarsveld, Richard H; Oegema, Renske; van Gassen, Koen L I; Holwerda, Sjoerd J B; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

扩展CHD2相关脑病的突变图谱和临床表型

Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie

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

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome

与复杂神经精神表型(包括图雷特综合征)相关的ZBTB11双等位基因变异

Scala, Marcello; De Grandis, Elisa; Nobile, Giulia; Iacomino, Michele; Madia, Francesca; Capra, Valeria; Nobili, Lino; Zara, Federico; Striano, Pasquale