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

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects

儿童期起病癫痫-运动障碍综合征的遗传复杂性:来自97例受试者队列研究的启示

Caputo, Davide; Solazzi, Roberta; Castellotti, Barbara; Panteghini, Celeste; Sciacca, Francesca Luisa; Visani, Elisa; Freri, Elena; Ragona, Francesca; Canafoglia, Laura; Zibordi, Federica; Zorzi, Giovanna; Gandelli, Shari; Gellera, Cinzia; Franceschetti, Silvana; Nardocci, Nardo; Granata, Tiziana

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy

与进行性肌阵挛性癫痫和家族性成人肌阵挛性癫痫相关的MARCHF6重复扩增的新型复杂构型

Bennett, Mark F; Corbett, Mark A; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L; Cameron, Jillian M; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G; Ibañez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M; Hildebrand, Michael S; Scheffer, Ingrid E; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F; Bahlo, Melanie

Myoclonus: Differential diagnosis and current management

肌阵挛:鉴别诊断和当前治疗

Riva, Antonella; D'Onofrio, Gianluca; Ferlazzo, Edoardo; Pascarella, Angelo; Pasini, Elena; Franceschetti, Silvana; Panzica, Ferruccio; Canafoglia, Laura; Vignoli, Aglaia; Coppola, Antonietta; Badioni, Valeria; Beccaria, Francesca; Labate, Angelo; Gambardella, Antonio; Romeo, Antonino; Capovilla, Giuseppe; Michelucci, Roberto; Striano, Pasquale; Belcastro, Vincenzo

Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach

儿童期癫痫的下一代测序:靶向基因组分析和个体化治疗方案

Castellotti, Barbara; Ragona, Francesca; Freri, Elena; Messina, Giuliana; Magri, Stefania; Previtali, Roberto; Solazzi, Roberta; Franceschetti, Silvana; Taroni, Franco; Canafoglia, Laura; Gellera, Cinzia; Granata, Tiziana; DiFrancesco, Jacopo C

Early cortico-muscular coherence and cortical network changes in Parkinson's patients treated with MRgFUS

接受磁共振引导聚焦超声治疗的帕金森病患者早期皮质肌肉相干性和皮质网络变化

Visani, Elisa; Panzica, Ferruccio; Franceschetti, Silvana; Golfrè Andreasi, Nico; Cilia, Roberto; Rinaldo, Sara; Rossi Sebastiano, Davide; Lanteri, Paola; Eleopra, Roberto

A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins

对皮质肌阵挛的重新评估及对不同病因引起的肌阵挛的简要评述

Canafoglia, Laura; Meletti, Stefano; Bisulli, Francesca; Alvisi, Lara; Assenza, Giovanni; d'Orsi, Giuseppe; Dubbioso, Raffaele; Ferlazzo, Edoardo; Ferri, Lorenzo; Franceschetti, Silvana; Gambardella, Antonio; Granvillano, Alice; Licchetta, Laura; Nucera, Bruna; Panzica, Ferruccio; Perulli, Marco; Provini, Federica; Rubboli, Guido; Strigaro, Gionata; Suppa, Antonio; Tartara, Elena; Cantalupo, Gaetano

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

Teaching Video NeuroImage: Reflex Seizures Mimicking Paroxysmal Dystonic Movements in a Patient With Late-Onset Rasmussen Encephalitis

教学视频 NeuroImage:晚发性拉斯穆森脑炎患者的反射性癫痫发作模拟阵发性肌张力障碍运动

Stabile, Andrea; Franceschetti, Silvana; Deleo, Francesco; Di Giacomo, Roberta; Didato, Giuseppe; Pastori, Chiara; Panzica, Ferruccio; De Curtis, Marco; Villani, Flavio; Canafoglia, Laura

Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases

病例报告:SLC6A1基因突变引起孤立性失神发作:2例新病例描述

Caputo, Davide; Franceschetti, Silvana; Castellotti, Barbara; Freri, Elena; Zorzi, G; Saletti, Veronica; Canafoglia, Laura; Granata, Tiziana

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

由SEMA6B基因突变引起的进行性肌阵挛性癫痫:新变异及已发表表型的评估

Castellotti, Barbara; Canafoglia, Laura; Freri, Elena; Tappatà, Maria; Messina, Giuliana; Magri, Stefania; DiFrancesco, Jacopo C; Fanella, Martina; Di Bonaventura, Carlo; Morano, Alessandra; Granata, Tiziana; Gellera, Cinzia; Franceschetti, Silvana; Michelucci, Roberto