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É

Édouard Hirsch

francis rohmer epilepsy unit, ern epicare, créer, cic, strasbourg, france
H指数:66
被引数:2.4万

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Seizure-related biomarkers of sudden unexpected death in epilepsy (SUDEP) in drug-resistant focal epilepsy (REPO2MSE): a prospective, multicentre case–control study

癫痫相关性猝死（SUDEP）的药物难治性局灶性癫痫（REPO2MSE）生物标志物：一项前瞻性、多中心病例对照研究

The Lancet Neurology
IF0
2025-11-210
OAAI
Philippe Ryvlin; Margaux Huot; Luc Valton; Louis Maillard; Fabrice Bartolomei; Philippe Derambure; Edouard Hirsch; Véronique Michel; Francine Chassoux; Jérôme Petit; Arielle Crespel; Arnaud Biraben; Vincent Navarro; Philippe Kahane; Bertrand De Toffol; Pierre Thomas; Sarah Rosenberg; Adriano Bernini; Anne-Laure Charlois; Laura Craciun
Real-world effectiveness and tolerability of cenobamate in drug-resistant epilepsy: A retrospective analysis of the patients included into the Early Access Programs (EAP) in Germany, France, and United Kingdom

苯氧胺（cenobamate）在药物难治性癫痫中的实际疗效和耐受性：一项对德国、法国和英国早期准入计划（EAP）中纳入患者进行的回顾性分析

EPILEPSIA OPEN
IF2.9
2025-03-220
OAAI
Sylvain Rheims; Bernhard J. Steinhoff; Edouard Hirsch; Felix Rosenow; Arnaud Biraben; Rhys Thomas; Alessandro Lovera; Paola Lipone
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput SequencingdA Multicenter Cohort Study
PEDIATRIC NEUROLOGY
IF2.1
2024-10-010
PRE
Baer, Sarah; Schalk, Audrey; Miguet, Marguerite; Schaefer, Elise; El Chehadeh, Salima; Ginglinger, Emmanuelle; Martin, Anne de Saint; Warde, Marie-Therese Abi; Laugel, Vincent; de Feraudy, Yvan; Gauer, Lucas; Hirsch, Edouard; Boulay, Clotilde; Bansept, Claire; Bolocan, Anamaria; Kitadinis, Ismini; Gouronc, Aurelie; Gerard, Benedicte; Piton, Amelie; Scheidecker, Sophie
CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas

具有PLAGL1-fusion的CNS肿瘤: 在幕上室管膜瘤的遗传谱中超越ZFTA和YAP1

ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2024-04-052
OAAI
Tauziede-Espariat, Arnault; Nicaise, Yvan; Sievers, Philipp; Sahm, Felix; von Deimling, Andreas; Guillemot, Delphine; Pierron, Gaelle; Duchesne, Mathilde; Edjlali, Myriam; Dangouloff-Ros, Volodia; Boddaert, Nathalie; Roux, Alexandre; Dezamis, Edouard; Hasty, Lauren; Lhermitte, Benoit; Hirsch, Edouard; Hirsch, Maria Paola Valenti; Ardellier, Francois-Daniel; Karnoub, Melodie-Anne; Csanyi, Marie; Maurage, Claude-Alain; Mokhtari, Karima; Bielle, Franck; Rigau, Valerie; Roujeau, Thomas; Abad, Marine; Klein, Sebastien; Bernier, Michele; Horodyckid, Catherine; Adam, Clovis; Brandal, Petter; Niehusmann, Pitt; Vannod-Michel, Quentin; Provost, Corentin; de Champfleur, Nicolas Menjot; Nichelli, Lucia; Metais, Alice; Mariet, Cassandra; Chretien, Fabrice; Blauwblomme, Thomas; Beccaria, Kevin; Pallud, Johan; Puget, Stephanie; Uro-Coste, Emmanuelle; Varlet, Pascale
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 GENETICS
IF31.8
2023-08-3143
OAAI
Stevelink, 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
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

国际抗癫痫联盟不同年龄发作的癫痫综合征的分类和定义: ILAE疾病和定义工作组的立场声明

EPILEPSIA
IF6.6
2022-05-03117
OAAI
Riney, Kate; Bogacz, Alicia; Somerville, Ernest; Hirsch, Edouard; Nabbout, Rima; Scheffer, Ingrid E.; Zuberi, Sameer M.; Alsaadi, Taoufik; Jain, Satish; French, Jacqueline; Specchio, Nicola; Trinka, Eugen; Wiebe, Samuel; Auvin, Stephane; Cabral-Lim, Leonor; Naidoo, Ansuya; Perucca, Emilio; Moshe, Solomon L.; Wirrell, Elaine C.; Tinuper, Paolo
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

新生儿和婴儿发作的癫痫综合征的ILAE分类和定义: ILAE疾病学和定义工作组的立场声明

EPILEPSIA
IF6.6
2022-05-03412
OAAI
Zuberi, Sameer M.; Wirrell, Elaine; Yozawitz, Elissa; Wilmshurst, Jo M.; Specchio, Nicola; Riney, Kate; Pressler, Ronit; Auvin, Stephane; Samia, Pauline; Hirsch, Edouard; Galicchio, Santiago; Triki, Chahnez; Snead, O. Carter; Wiebe, Samuel; Cross, J. Helen; Tinuper, Paolo; Scheffer, Ingrid E.; Perucca, Emilio; Moshe, Solomon L.; Nabbout, Rima
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

ILAE对特发性全身性癫痫综合征的定义: ILAE疾病学和定义工作组的立场声明

EPILEPSIA
IF6.6
2022-05-03233
OAAI
Hirsch, Edouard; French, Jacqueline; Scheffer, Ingrid E.; Bogacz, Alicia; Alsaadi, Taoufik; Sperling, Michael R.; Abdulla, Fatema; Zuberi, Sameer M.; Trinka, Eugen; Specchio, Nicola; Somerville, Ernest; Samia, Pauline; Riney, Kate; Nabbout, Rima; Jain, Satish; Wilmshurst, Jo M.; Auvin, Stephane; Wiebe, Samuel; Perucca, Emilio; Moshe, Solomon L.; Tinuper, Paolo; Wirrell, Elaine C.
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

癫痫综合征的分类和定义与综合征列表的方法: ILAE疾病学和定义工作组的报告

EPILEPSIA
IF6.6
2022-05-03119
OAAI
Wirrell, Elaine C.; Nabbout, Rima; Scheffer, Ingrid E.; Alsaadi, Taoufik; Bogacz, Alicia; French, Jacqueline A.; Hirsch, Edouard; Jain, Satish; Kaneko, Sunao; Riney, Kate; Samia, Pauline; Snead, O. Carter; Somerville, Ernest; Specchio, Nicola; Trinka, Eugen; Zuberi, Sameer M.; Balestrini, Simona; Wiebe, Samuel; Cross, J. Helen; Perucca, Emilio; Moshe, Solomon L.; Tinuper, Paolo
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

国际抗癫痫联盟儿童发作的癫痫综合征的分类和定义: ILAE关于疾病和定义的工作组的立场文件

EPILEPSIA
IF6.6
2022-05-03411
OAAI
Specchio, Nicola; Wirrell, Elaine C.; Scheffer, Ingrid E.; Nabbout, Rima; Riney, Kate; Samia, Pauline; Guerreiro, Marilisa; Gwer, Sam; Zuberi, Sameer M.; Wilmshurst, Jo M.; Yozawitz, Elissa; Pressler, Ronit; Hirsch, Edouard; Wiebe, Sam; Cross, Helen J.; Perucca, Emilio; Moshe, Solomon L.; Tinuper, Paolo; Auvin, Stephane
A brain atlas of axonal and synaptic delays based on modelling of cortico-cortical evoked potentials

基于皮质-皮质诱发电位建模的轴突和突触延迟的脑图谱

BRAIN
IF11.7
2021-11-2331
OAAI
Lemarechal, Jean-Didier; Jedynak, Maciej; Trebaul, Lena; Boyer, Anthony; Tadel, Francois; Bhattacharjee, Manik; Deman, Pierre; Tuyisenge, Viateur; Ayoubian, Leila; Hugues, Etienne; Chanteloup-Foret, Blandine; Saubat, Carole; Zouglech, Raouf; Mejia, Gina Catalina Reyes; Tourbier, Sebastien; Hagmann, Patric; Adam, Claude; Barba, Carmen; Bartolomei, Fabrice; Blauwblomme, Thomas; Curot, Jonathan; Dubeau, Francois; Francione, Stefano; Garces, Mercedes; Hirsch, Edouard; Landre, Elizabeth; Liu, Sinclair; Maillard, Louis; Metsahonkala, Eeva-Liisa; Mindruta, Ioana; Nica, Anca; Pail, Martin; Petrescu, Ana Maria; Rheims, Sylvain; Rocamora, Rodrigo; Schulze-Bonhage, Andreas; Szurhaj, William; Taussig, Delphine; Valentin, Antonio; Wang, Haixiang; Kahane, Philippe; George, Nathalie; David, Olivier
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

KCNT1-related癫痫和癫痫性脑病: 表型和突变谱

BRAIN
IF11.7
2021-06-1140
OA
Bonardi, 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
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

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-0143
OAAI
Motelow, 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.
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

双等位基因PDE2A变体: 综合征性阵发性运动障碍的新原因

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2020-05-2827
OAAI
Doummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jeremie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Baer, Severine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Therese Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle

研究方向

暂未获取到该数据
G
Gabrielle Rudolf
H 指数:43论文数:142被引数:6,587
I
Ingrid E. Scheffer
H 指数:141论文数:1,049被引数:8.9万
A
Anne de Saint Martin
H 指数:40论文数:235被引数:5,699
P
Philippe Ryvlin
H 指数:82论文数:525被引数:2.4万
C
Christian Marescaux
H 指数:62论文数:268被引数:1.2万
P
Paolo Tinuper
H 指数:63论文数:540被引数:1.7万
G
Gaëtan Lesca
H 指数:67论文数:447被引数:1.4万
F
Fabrice Bartoloméi
H 指数:91论文数:699被引数:2.8万
S
Sameer M. Zuberi
H 指数:71论文数:252被引数:2.7万
S
Solomon L. Moshé
H 指数:85论文数:487被引数:4.7万