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Hiltrud Muhle
university medical center schleswig-holstein and christian albrecht university of kiel
60H指数
262论文数
1.2W被引数
收录论文 74
发表时间
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Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy遗传性全身性癫痫患者中多基因风险评分与临床表型的相关性.png)
Epilepsia.png)
2026-09-10
0
OAAI
Sophie von Brauchitsch; Nils Hartung; Robin A. Karge; Bobby Koeleman; Samuel F. Berkovic; Danielle M. Andrade; Francesca Bisulli; Antonio Gambardella; Renzo Guerrini; Ingrid E. Scheffer; Ingo Helbig; Wolfram S. Kunz; Holger Lerche; Hiltrud Muhle; Christian Boßelmann; Savvas S. Papacostas; Mark I. Rees; Sanjay M. Sisodiya; Pasquale Striano; Lynnette Sadleir; Yvonne Weber; Dennis Lal; Costin Leu; Philipp S. Reif; Stefan Wolking; Felix Rosenow; Karl Martin Klein; for the Epi25 Collaborative
EpilepsiaIF6.6
2026-09-100OAAISophie von Brauchitsch; Nils Hartung; Robin A. Karge; Bobby Koeleman; Samuel F. Berkovic; Danielle M. Andrade; Francesca Bisulli; Antonio Gambardella; Renzo Guerrini; Ingrid E. Scheffer; Ingo Helbig; Wolfram S. Kunz; Holger Lerche; Hiltrud Muhle; Christian Boßelmann; Savvas S. Papacostas; Mark I. Rees; Sanjay M. Sisodiya; Pasquale Striano; Lynnette Sadleir; Yvonne Weber; Dennis Lal; Costin Leu; Philipp S. Reif; Stefan Wolking; Felix Rosenow; Karl Martin Klein; for the Epi25 Collaborative.png){kind=icon}
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收藏STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neuronsSTX1B变异特异性的突触功能障碍与人iPSC来源神经元中的网络过度兴奋相关EBioMedicine2026-08-310
OAAICarolin Haag; Felix Gsell; Oleg Vinogradov; Morgana Barroso Oquendo; Yuanyuan Liu; Betül Uysal; Heidi Löffler; Fabienne Stehle; Fabian Klopfer; Jan Crönlein; Kaja Böttcher; Ruud F. Toonen; Hiltrud Muhle; Bernhard Kohl; Holger Lerche; Niklas Schwarz
EBioMedicineIF10.8
2026-08-310OAAICarolin Haag; Felix Gsell; Oleg Vinogradov; Morgana Barroso Oquendo; Yuanyuan Liu; Betül Uysal; Heidi Löffler; Fabienne Stehle; Fabian Klopfer; Jan Crönlein; Kaja Böttcher; Ruud F. Toonen; Hiltrud Muhle; Bernhard Kohl; Holger Lerche; Niklas Schwarz分享收藏Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis评估基因组测序策略：三联测序、单样本测序及标准检测在罕见病诊断中的应用Genome Medicine2025-09-190OAAIDaniel Kaschta; Christina Post; Franziska Gaass; Milad Al-Tawil; Vincent Arriens; Saranya Balachandran; Tobias Bäumer; Valerie Berge; Friederike Birgel; Andreas Dalski; Maike Dittmar; Andre Franke; Sören Franzenburg; Janina Fuß; Bettina Gehring; Rebecca Gembicki; Bianca Greiten; Kristin Grohte; Britta Hanker; Kristian Händler; Lana Harder; Yorck Hellenbroich; Theresia Herget; Gloria Herrmann; Olaf Hiort; Kirstin Hoff; Birga Hoffmann; Nadine Hornig; Irina Hüning; Monika Kautza-Lucht; Juliane Köhler; Anna-Sophie Liegmann; Jasmin Lisfeld; Britt-Sabina Löscher; Nils G. Margraf; Michelle Meyenborg; Anna Möllring; Hiltrud Muhle; Eva Maria Murga Penas; Henning Nommels; Dzhoy Papingi; Imke Poggenburg; Jelena Pozojevic; Philip Rosenstiel; Andreas Recke; Kimberly Roberts; Laelia Rösler; Franka Rust; Maj-Britt Salewski; Katharina Schau-Römer; Christian Schlein; Varun K.A. Sreenivasan; Louiza Toutouna; Caroline Utermann-Thüsing; Amelie T. van der Ven; Alexander E. Volk; Janne Wehnert; Sandra Wilson; Rixa Woitschach; Veronica Yumiceba; Christine Zühlke; Alexander Münchau; Norbert Brüggemann; Inga Vater; Almuth Caliebe; Inga Nagel; Malte Spielmann
Genome MedicineIF11.2
2025-09-190OAAIDaniel Kaschta; Christina Post; Franziska Gaass; Milad Al-Tawil; Vincent Arriens; Saranya Balachandran; Tobias Bäumer; Valerie Berge; Friederike Birgel; Andreas Dalski; Maike Dittmar; Andre Franke; Sören Franzenburg; Janina Fuß; Bettina Gehring; Rebecca Gembicki; Bianca Greiten; Kristin Grohte; Britta Hanker; Kristian Händler; Lana Harder; Yorck Hellenbroich; Theresia Herget; Gloria Herrmann; Olaf Hiort; Kirstin Hoff; Birga Hoffmann; Nadine Hornig; Irina Hüning; Monika Kautza-Lucht; Juliane Köhler; Anna-Sophie Liegmann; Jasmin Lisfeld; Britt-Sabina Löscher; Nils G. Margraf; Michelle Meyenborg; Anna Möllring; Hiltrud Muhle; Eva Maria Murga Penas; Henning Nommels; Dzhoy Papingi; Imke Poggenburg; Jelena Pozojevic; Philip Rosenstiel; Andreas Recke; Kimberly Roberts; Laelia Rösler; Franka Rust; Maj-Britt Salewski; Katharina Schau-Römer; Christian Schlein; Varun K.A. Sreenivasan; Louiza Toutouna; Caroline Utermann-Thüsing; Amelie T. van der Ven; Alexander E. Volk; Janne Wehnert; Sandra Wilson; Rixa Woitschach; Veronica Yumiceba; Christine Zühlke; Alexander Münchau; Norbert Brüggemann; Inga Vater; Almuth Caliebe; Inga Nagel; Malte Spielmann分享收藏Efficacy and tolerability of fenfluramine with concomitant potassium bromide in patients with Dravet syndrome芬氟拉明联合同时使用溴化钾在Dravet综合征患者中的有效性和耐受性Epilepsia Open2025-07-170OAAIMilka Pringsheim; Gerhard Kluger; Adam Strzelczyk; Susanne Schubert-Bast; Thomas Mayer; Benjamin Glauche; Hiltrud Muhle; Michael Alber; Hartwig Spors; Tilmann Polster; Regina Trollmann; Gerhard Kurlemann; Markus Berndt; Kerstin A. Klotz
Epilepsia OpenIF2.9
2025-07-170OAAIMilka Pringsheim; Gerhard Kluger; Adam Strzelczyk; Susanne Schubert-Bast; Thomas Mayer; Benjamin Glauche; Hiltrud Muhle; Michael Alber; Hartwig Spors; Tilmann Polster; Regina Trollmann; Gerhard Kurlemann; Markus Berndt; Kerstin A. Klotz分享收藏GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture超过29,000名癫痫患者的ghis荟萃分析确定了26个风险基因座和亚型特异性遗传结构NATURE GENETICS2023-08-3143OAAIStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar
NATURE GENETICSIF31.8
2023-08-3143OAAIStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar分享收藏KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesKCNT2-Related障碍: 表型、功能和药理学特性ANNALS OF NEUROLOGY2023-05-2212OAAICioclu, Maria Cristina; Mosca, Ilaria; Ambrosino, Paolo; Puzo, Deborah; Bayat, Allan; Wortmann, Saskia B.; Koch, Johannes; Strehlow, Vincent; Shirai, Kentaro; Matsumoto, Naomichi; Sanders, Stephan J.; Michaud, Vincent; Legendre, Marine; Riva, Antonella; Striano, Pasquale; Muhle, Hiltrud; Pendziwiat, Manuela; Lesca, Gaetan; Mangano, Giuseppe Donato; Nardello, Rosaria; Lemke, Johannes R.; Moller, Rikke S.; Soldovieri, Maria Virginia; Rubboli, Guido; Taglialatela, Maurizio
ANNALS OF NEUROLOGYIF7.7
2023-05-2212OAAICioclu, Maria Cristina; Mosca, Ilaria; Ambrosino, Paolo; Puzo, Deborah; Bayat, Allan; Wortmann, Saskia B.; Koch, Johannes; Strehlow, Vincent; Shirai, Kentaro; Matsumoto, Naomichi; Sanders, Stephan J.; Michaud, Vincent; Legendre, Marine; Riva, Antonella; Striano, Pasquale; Muhle, Hiltrud; Pendziwiat, Manuela; Lesca, Gaetan; Mangano, Giuseppe Donato; Nardello, Rosaria; Lemke, Johannes R.; Moller, Rikke S.; Soldovieri, Maria Virginia; Rubboli, Guido; Taglialatela, Maurizio分享收藏Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile EpilepsyNEUROLOGY-GENETICS2022-10-019OAAIDoring, Jan H.; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Klabunde-Cherwon, Annick; Kluger, Gerhard; Muhle, Hiltrud; Pendziwiat, Manuela; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Schroter, Julian; Hoffmann, Georg F.; Kolker, Stefan; Syrbe, Steffen
NEUROLOGY-GENETICSIF3.7
2022-10-019OAAIDoring, Jan H.; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Klabunde-Cherwon, Annick; Kluger, Gerhard; Muhle, Hiltrud; Pendziwiat, Manuela; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Schroter, Julian; Hoffmann, Georg F.; Kolker, Stefan; Syrbe, Steffen分享收藏Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic VariantsNEUROLOGY2022-05-1711OAAISchwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brunger, 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
NEUROLOGYIF8.5
2022-05-1711OAAISchwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brunger, 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分享收藏Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in GermanyEPILEPSIA2021-08-1022OAAIStrzelczyk, Adam; Pringsheim, Milka; Mayer, Thomas; Polster, Tilman; Klotz, Kerstin A.; Muhle, Hiltrud; Alber, Michael; Trollmann, Regina; Spors, Hartwig; Kluger, Gerhard; Kurlemann, Gerhard; Schubert-Bast, Susanne
EPILEPSIAIF6.6
2021-08-1022OAAIStrzelczyk, Adam; Pringsheim, Milka; Mayer, Thomas; Polster, Tilman; Klotz, Kerstin A.; Muhle, Hiltrud; Alber, Michael; Trollmann, Regina; Spors, Hartwig; Kluger, Gerhard; Kurlemann, Gerhard; Schubert-Bast, Susanne分享收藏Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' PerspectivesCNS DRUGS2021-07-1717OAAIWillems, Laurent M.; Rosenow, Felix; Schubert-Bast, Susanne; Kurlemann, Gerhard; Zoellner, Johann Philipp; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Ebrahimi-Fakhari, Daniel; Grau, Janina; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klein, Karl Martin; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; von Podewils, Felix; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca; Strzelczyk, Adam
CNS DRUGSIF7.4
2021-07-1717OAAIWillems, Laurent M.; Rosenow, Felix; Schubert-Bast, Susanne; Kurlemann, Gerhard; Zoellner, Johann Philipp; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Ebrahimi-Fakhari, Daniel; Grau, Janina; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klein, Karl Martin; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; von Podewils, Felix; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca; Strzelczyk, Adam分享收藏Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study2021-06-2117OAAIGrau, Janina; Zollner, Johann Philipp; Schubert-Bast, Susanne; Kurlemann, Gerhard; Hertzberg, Christoph; Wiemer-Kruel, Adelheid; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Fiedler, Barbara; Hahn, Andreas; Hartmann, Hans; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Kieslich, Matthias; Klein, Karl Martin; Klotz, Kerstin A.; Kluger, Gerhard; Knuf, Markus; Mayer, Thomas; Marquard, Klaus; Meyer, Sascha; Muhle, Hiltrud; Muller-Schluter, Karen; Noda, Anna H.; Ruf, Susanne; Sauter, Matthias; Schlump, Jan-Ulrich; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wilken, Bernd; Willems, Laurent M.; Rosenow, Felix; Strzelczyk, Adam
2021-06-2117OAAIGrau, Janina; Zollner, Johann Philipp; Schubert-Bast, Susanne; Kurlemann, Gerhard; Hertzberg, Christoph; Wiemer-Kruel, Adelheid; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Fiedler, Barbara; Hahn, Andreas; Hartmann, Hans; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Kieslich, Matthias; Klein, Karl Martin; Klotz, Kerstin A.; Kluger, Gerhard; Knuf, Markus; Mayer, Thomas; Marquard, Klaus; Meyer, Sascha; Muhle, Hiltrud; Muller-Schluter, Karen; Noda, Anna H.; Ruf, Susanne; Sauter, Matthias; Schlump, Jan-Ulrich; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wilken, Bernd; Willems, Laurent M.; Rosenow, Felix; Strzelczyk, Adam分享收藏KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumKCNT1-related癫痫和癫痫性脑病: 表型和突变谱BRAIN2021-06-1140OAAIBonardi, Claudia M.; Heyne, Henrike O.; Fiannacca, Martina; Fitzgerald, Mark P.; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaetan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M.; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Genevieve; Ville, Dorothee; Hirsch, Edouard; Maurey, Helene; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A.; Kroes, Hester Y.; Reale, Chiara; Fenger, Christina D.; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R.; Moller, Rikke S.; Rubboli, Guido
BRAINIF11.7
2021-06-1140OAAIBonardi, Claudia M.; Heyne, Henrike O.; Fiannacca, Martina; Fitzgerald, Mark P.; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaetan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M.; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Genevieve; Ville, Dorothee; Hirsch, Edouard; Maurey, Helene; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A.; Kroes, Hester Y.; Reale, Chiara; Fenger, Christina D.; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R.; Moller, Rikke S.; Rubboli, Guido分享收藏Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals亚基因不耐受，ClinVar和癫痫: 29,165个人的全外显子组测序研究2021-06-0143OAAIMotelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; 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; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.
2021-06-0143OAAIMotelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; 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; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.分享收藏Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature2021-05-3113Strzelczyk, Adam; Grau, Janina; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Kurlemann, Gerhard; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; von Podewils, Felix; Rosenow, Felix; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Schubert-Bast, Susanne; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca; Zoellner, Johann Philipp
2021-05-3113PREAI
Strzelczyk, Adam; Grau, Janina; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Kurlemann, Gerhard; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; von Podewils, Felix; Rosenow, Felix; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Schubert-Bast, Susanne; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca; Zoellner, Johann Philipp分享收藏The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodBIOMEDICINES2020-10-2830OAAIDoering, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggraefe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjorg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kuehne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; von Stuelpnagel, Celina; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Koelker, Stefan; Syrbe, Steffen
BIOMEDICINESIF3.9
2020-10-2830OAAIDoering, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggraefe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjorg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kuehne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; von Stuelpnagel, Celina; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Koelker, Stefan; Syrbe, Steffen分享收藏Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies语义相似性分析揭示了发育性和癫痫性脑病中强大的基因-疾病关系2020-10-0127OAAIGaler, Peter D.; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E.; Pendziwiat, Manuela; Helbig, Katherine L.; Ellis, Colin A.; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; Thomas, Rhys H.; Krause, Roland; Weber, Yvonne; Helbig, Ingo
2020-10-0127OAAIGaler, Peter D.; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E.; Pendziwiat, Manuela; Helbig, Katherine L.; Ellis, Colin A.; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; Thomas, Rhys H.; Krause, Roland; Weber, Yvonne; Helbig, Ingo分享收藏RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum2019-12-0823OAAIMendes, Marisa, I; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K.; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A.; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L.; Salomons, Gajja S.; van der Knaap, Marjo S.; Wolf, Nicole, I
2019-12-0823OAAIMendes, Marisa, I; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K.; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A.; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L.; Salomons, Gajja S.; van der Knaap, Marjo S.; Wolf, Nicole, I分享收藏Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals癫痫患者的超罕见遗传变异: 17,606个体的全外显子组测序研究2019-08-01186OAAIFeng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Cavalleri, Gianpiero L.; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G.; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Leu, Costin; Bennett, Caitlin A.; Johns, Esther M. C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gabor; Elger, Christian E.; Bauer, Jurgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Mueller-Schlueter, Karen; Kluger, Gerhard; Hausler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F.; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggrafe, Ingo; Schankin, Christoph J.; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Barisic, Nina; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Yis, Uluc; Topaloglu, Pinar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Ugur-Iseri, Sibel; Baykan, Betul; Salman, Baris; Haryanyan, Garen; Yucesan, Emrah; Kesim, Yesim; Ozkara, Cigdem; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T.; Pato, Carlos N.; Bromet, Evelyn J.; Carvalho, Celia Barreto; Achtyes, Eric D.; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S.; Malaspina, Dolores; Marder, Stephen R.; Medeiros, Helena; Morley, Christopher P.; Perkins, Diana O.; Sobell, Janet L.; Buckley, Peter F.; Macciardi, Fabio; Rapaport, Mark H.; Knowles, James A.; Fanous, Ayman H.; McCarroll, Steven A.; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Lowenstein, Daniel H.; Goldstein, David B.; Lerche, Holger; Berkovic, Samuel F.; Neale, Benjamin M.
2019-08-01186OAAIFeng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Cavalleri, Gianpiero L.; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G.; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Leu, Costin; Bennett, Caitlin A.; Johns, Esther M. C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gabor; Elger, Christian E.; Bauer, Jurgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Mueller-Schlueter, Karen; Kluger, Gerhard; Hausler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F.; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggrafe, Ingo; Schankin, Christoph J.; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Barisic, Nina; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Yis, Uluc; Topaloglu, Pinar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Ugur-Iseri, Sibel; Baykan, Betul; Salman, Baris; Haryanyan, Garen; Yucesan, Emrah; Kesim, Yesim; Ozkara, Cigdem; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T.; Pato, Carlos N.; Bromet, Evelyn J.; Carvalho, Celia Barreto; Achtyes, Eric D.; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S.; Malaspina, Dolores; Marder, Stephen R.; Medeiros, Helena; Morley, Christopher P.; Perkins, Diana O.; Sobell, Janet L.; Buckley, Peter F.; Macciardi, Fabio; Rapaport, Mark H.; Knowles, James A.; Fanous, Ayman H.; McCarroll, Steven A.; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Lowenstein, Daniel H.; Goldstein, David B.; Lerche, Holger; Berkovic, Samuel F.; Neale, Benjamin M.分享收藏TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (vol 21, pg 601, 2019)GENETICS IN MEDICINE2019-08-010OAAIDines, Jennifer N.; Golden-Grant, Katie; LaCroix, Amy; Muir, Alison M.; Cintron, Dianne Laboy; McWalter, Kirsty; Cho, Megan T.; Sun, Angela; Merritt, J. Lawrence; Thies, Jenny; Niyazov, Dmitriy; Burton, Barbara; Kim, Katherine; Fleming, Leah; Westman, Rachel; Karachunski, Peter; Dalton, Joline; Basinger, Alice; Ficicioglu, Can; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Helbig, Katherine L.; Caliebe, Almuth; Santer, Rene; Becker, Kolja; Suchy, Sharon; Douglas, Ganka; Millan, Francisca; Begtrup, Amber; Monaghan, Kristin G.; Mefford, Heather C.
GENETICS IN MEDICINEIF6.2
2019-08-010OAAIDines, Jennifer N.; Golden-Grant, Katie; LaCroix, Amy; Muir, Alison M.; Cintron, Dianne Laboy; McWalter, Kirsty; Cho, Megan T.; Sun, Angela; Merritt, J. Lawrence; Thies, Jenny; Niyazov, Dmitriy; Burton, Barbara; Kim, Katherine; Fleming, Leah; Westman, Rachel; Karachunski, Peter; Dalton, Joline; Basinger, Alice; Ficicioglu, Can; Helbig, Ingo; Pendziwiat, Manuela; Muhle, Hiltrud; Helbig, Katherine L.; Caliebe, Almuth; Santer, Rene; Becker, Kolja; Suchy, Sharon; Douglas, Ganka; Millan, Francisca; Begtrup, Amber; Monaghan, Kristin G.; Mefford, Heather C.分享收藏A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyAP2M1中的复发性错义变体会损害网格蛋白介导的内吞作用，并导致发育性和癫痫性脑病2019-06-0176OAAIHelbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter
2019-06-0176OAAIHelbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter分享收藏