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Items: 1 to 20 of 250

1.
Tiantian Xiao, Xiang Chen, Yan Xu, Huiyao Chen, Xinran Dong, Lin Yang, Bingbing Wu, Liping Chen, Long Li, Deyi Zhuang, Dongmei Chen, Yuanfeng Zhou, Huijun Wang, Wenhao Zhou
Front Mol Neurosci. 2022; 15: 809810. Published online 2022 Apr 26. doi: 10.3389/fnmol.2022.809810
PMCID:
PMC9088225
2.
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
eBioMedicine. 2022 Jul; 81: 104130. Published online 2022 Jun 30. doi: 10.1016/j.ebiom.2022.104130
PMCID:
PMC9254340
3.
Yan Xu, Ya-lan Dou, Xiang Chen, Xin-ran Dong, Xin-hua Wang, Bing-bing Wu, Guo-qiang Cheng, Yuan-feng Zhou
BMC Pediatr. 2021; 21: 477. Published online 2021 Oct 28. doi: 10.1186/s12887-021-02946-z
PMCID:
PMC8555078
4.
Mathieu Milh, Pierre Roubertoux, Najoua Biba, Julie Chavany, Adeline Spiga Ghata, Camille Fulachier, Stephan Christopher Collins, Christel Wagner, Jean‐Christophe Roux, Binnaz Yalcin, Marie‐Solenne Félix, Florence Molinari, Pierre‐Pascal Lenck‐Santini, Laurent Villard
Epilepsia. 2020 May; 61(5): 868–878. Published online 2020 Apr 2. doi: 10.1111/epi.16494
PMCID:
PMC7317210
5.
Nina Dirkx, Francesco Miceli, Maurizio Taglialatela, Sarah Weckhuysen
Front Physiol. 2020; 11: 570588. Published online 2020 Oct 28. doi: 10.3389/fphys.2020.570588
PMCID:
PMC7657400
6.
Yuehang Geng, Xinlin Hou
Front Neurol. 2020; 11: 263. Published online 2020 Apr 17. doi: 10.3389/fneur.2020.00263
PMCID:
PMC7180217
7.
Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K. Huebner, Daniel G. Calame, Vinod K. Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E. Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M. Grochowski, Lisa Emrick, Wendy K. Chung, Ute A. Hellmich, Miriam Schmidts, James R. Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A. Hübner
Genet Med. 2024 Mar; 26(3): 101034. doi: 10.1016/j.gim.2023.101034
PMCID:
PMC11157690
8.
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Epilepsia Open. 2024 Jun; 9(3): 906–917. Published online 2024 Apr 29. doi: 10.1002/epi4.12824
PMCID:
PMC11145601
9.
Agung Triono, Elisabeth Siti Herini, Gunadi
J Med Case Rep. 2024; 18: 215. Published online 2024 Apr 23. doi: 10.1186/s13256-024-04514-2
PMCID:
PMC11036636
10.
Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, Antonietta Coppola
Int J Mol Sci. 2024 Apr; 25(7): 4110. Published online 2024 Apr 8. doi: 10.3390/ijms25074110
PMCID:
PMC11012983
11.
Tianyu Song, Jie Deng, Chunhong Chen, Xiaohui Wang, Tongli Han, Xu Wang, Tie Fang, Xiaojuan Tian, Fang Fang
Epilepsia Open. 2024 Apr; 9(2): 643–652. Published online 2024 Jan 18. doi: 10.1002/epi4.12899
PMCID:
PMC10984301
12.
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Nat Commun. 2024; 15: 2269. Published online 2024 Mar 13. doi: 10.1038/s41467-024-46354-0
PMCID:
PMC10937998
13.
Alba Saez-Matia, Markel G. Ibarluzea, Sara M-Alicante, Arantza Muguruza-Montero, Eider Nuñez, Rafael Ramis, Oscar R. Ballesteros, Diego Lasa-Goicuria, Carmen Fons, Mónica Gallego, Oscar Casis, Aritz Leonardo, Aitor Bergara, Alvaro Villarroel
Int J Mol Sci. 2024 Mar; 25(5): 2910. Published online 2024 Mar 2. doi: 10.3390/ijms25052910
PMCID:
PMC10932340
14.
陈 施梦, 邓 小鹿, 熊 娟, 陈 柏谕, 何 芳, 杨 丽芬, 羊 蠡, 彭 镜, 尹 飞
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Feb 28; 47(2): 265–270. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210070
PMCID:
PMC10930526
15.
François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas
Sci Rep. 2024; 14: 5289. Published online 2024 Mar 4. doi: 10.1038/s41598-024-53358-9
PMCID:
PMC10912112
16.
Elisa Musto, Maria Luigia Gambardella, Marco Perulli, Michela Quintiliani, Chiara Veredice, Tommaso Verdolotti, Giovanna Berté, Chiara Leoni, Roberta Onesimo, Silvia Maria Pulitanò, Marco Tartaglia, Giuseppe Zampino, Ilaria Contaldo, Domenica Immacolata Battaglia
Epilepsia Open. 2024 Feb; 9(1): 258–267. Published online 2023 Dec 20. doi: 10.1002/epi4.12864
PMCID:
PMC10839340
17.
Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li, Tianming Jia, Falin Xu, Kaixian Du, Lijun Wang, Qiliang Guo, Yan Dong
Epilepsia Open. 2024 Feb; 9(1): 250–257. Published online 2023 Dec 8. doi: 10.1002/epi4.12862
PMCID:
PMC10839330
18.
林 静琦, 李 牛, 姚 如恩, 郁 婷婷, 王 秀敏, 王 剑
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 25; 52(6): 693–700. Chinese. Published online 2023 Dec 12. doi: 10.3724/zdxbyxb-2023-0457
PMCID:
PMC10764188
19.
Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson
J Clin Invest. 2024 Jan 2; 134(1): e171235. Published online 2024 Jan 2. doi: 10.1172/JCI171235
PMCID:
PMC10760965
20.
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W. Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T Stumpel, Amy Goel, Juliet M Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat
J Med Genet. 2023 Dec; 60(12): 1224–1234. Published online 2023 Aug 16. doi: 10.1136/jmg-2023-109141
PMCID:
PMC10715526

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