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Items: 1 to 20 of 116

1.
Andreas Brunklaus, Susanne Schubert‐Bast, Francesca Darra, Katherine Nickels, Delphine Breuillard, Andrea Giuffrida, Claire Eldred, Silke Flege, Elena Cardenal‐Muñoz, Rocío Sánchez‐Carpintero
Epilepsia Open. 2025 Apr; 10(2): 450–465. Published online 2025 Feb 1. doi: 10.1002/epi4.13127
PMCID:
PMC12014930
2.
Alice Dallan, Giuseppe Reynolds, Carlotta Canavese, Diana Carli, Maria Luca, Andrea Gazzin, Marco Spada, Francesco Porta, Alessandro Mussa
Orphanet J Rare Dis. 2025; 20: 160. Published online 2025 Apr 4. doi: 10.1186/s13023-025-03665-9
PMCID:
PMC11971732
3.
WeiHui Shao, Lu Liu, JiaXuan Gu, Yue Yang, YaXuan Wu, ZhuoYue Zhang, Qing Xu, YuLing Wang, Yue Shen, LeYuan Gu, Yuan Cheng, HongHai Zhang
Transl Psychiatry. 2025; 15: 84. Published online 2025 Mar 17. doi: 10.1038/s41398-025-03304-8
PMCID:
PMC11914262
4.
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi, Sahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Al Balwi, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Mohamed S Abdel-Hamid, Hamed Naderi, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Javeria Raza Alvi, Tipu Sultan, Stephanie Efthymiou, Simon A S Pope, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatsuhiko Tsunoda, Robert D S Pitceathly, Yoshitaka Taketomi, Henry Houlden, Makoto Murakami, Yoichi Kato, Shinji Saitoh
Brain. 2024 Nov; 147(11): 3949–3967. Published online 2024 Jul 31. doi: 10.1093/brain/awae185
PMCID:
PMC11531855
5.
Shruti Dutta, Prasanta K. Gangopadhyay, Swagata Sinha, Anindita Chatterjee, Saurabh Ghosh, Usha Rajamma
Cell Mol Neurobiol. 2011 Jan; 31(1): 45–56. Published online 2010 Aug 10. doi: 10.1007/s10571-010-9551-7
PMCID:
PMC11498419
6.
Hannah Lewis, Debopam Samanta, Jenny-Li Örsell, Katherine A. Bosanko, Amy Rowell, Melissa Jones, Russell C. Dale, Sasidharan Taravath, Cecil D. Hahn, Deepa Krishnakumar, Sarah Chagnon, Stephanie Keller, Eveline Hagebeuk, Sheel Pathak, E. Martina Bebin, Daniel H. Arndt, John J. Alexander, Gayatra Mainali, Giangennaro Coppola, Jane Maclean, Steven Sparagana, Nancy McNamara, Douglas M. Smith, Víctor Raggio, Marcos Cruz, Alberto Fernández-Jaén, Maina P. Kava, Lisa Emrick, Jennifer L. Fish, Adeline Vanderver, Guy Helman, Tyler M. Pierson, Yuri A. Zarate
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2020 Nov; 112: 94–100. Published online 2020 Apr 13. doi: 10.1016/j.pediatrneurol.2020.04.006
PMCID:
PMC11348677
7.
Seungbok Lee, Mi‐Kyoung Kang, Ki Hurn So, Riyul Jang, Yong Woo Shin, Se Song Jang, Jihoon G. Yoon, Sheehyun Kim, Manjin Kim, Kon Chu, Sang Kun Lee, Ki Joong Kim, Seung Tae Baek, Byung Chan Lim, Jangsup Moon
Epilepsia Open. 2024 Aug; 9(4): 1538–1549. Published online 2024 Jul 1. doi: 10.1002/epi4.12993
PMCID:
PMC11296137
8.
Lucia Abela, Lorita Gianfrancesco, Erica Tagliatti, Giada Rossignoli, Katy Barwick, Clara Zourray, Kimberley M Reid, Dimitri Budinger, Joanne Ng, John Counsell, Arlo Simpson, Toni S Pearson, Simon Edvardson, Orly Elpeleg, Frances M Brodsky, Gabriele Lignani, Serena Barral, Manju A Kurian
Brain. 2024 Jun; 147(6): 2023–2037. Published online 2024 Jan 18. doi: 10.1093/brain/awae020
PMCID:
PMC11146427
9.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
10.
Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L. Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arelin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl-Wildemann, Hagit Daum, Rachel Michaelson-Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valerio Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner
Am J Hum Genet. 2024 Mar 7; 111(3): 594–613. Published online 2024 Feb 28. doi: 10.1016/j.ajhg.2024.02.005
PMCID:
PMC10940020
11.
Carolyn Daniels, Caitlin Greene, Lacey Smith, Elia Pestana-Knight, Scott Demarest, Bo Zhang, Timothy A Benke, Annapurna Poduri, Heather Olson, CDKL5 Study Group
Dev Med Child Neurol.
Published in final edited form as: Dev Med Child Neurol. 2024 Apr; 66(4): 456–468. Published online 2023 Sep 28. doi: 10.1111/dmcn.15747
PMCID:
PMC10922313
12.
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D’Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
Brain. 2024 Mar; 147(3): 1043–1056. Published online 2023 Oct 7. doi: 10.1093/brain/awad340
PMCID:
PMC10907083
13.
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Int J Mol Sci. 2024 Jan; 25(2): 1248. Published online 2024 Jan 19. doi: 10.3390/ijms25021248
PMCID:
PMC10816990
14.
Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Mohammad Amin Tabatabaiefar
Mol Genet Genomic Med. 2024 Jan; 12(1): e2305. Published online 2023 Oct 25. doi: 10.1002/mgg3.2305
PMCID:
PMC10767600
15.
Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G. Stefanou, Carolina Sismani
Heliyon. 2023 Dec; 9(12): e22987. Published online 2023 Nov 28. doi: 10.1016/j.heliyon.2023.e22987
PMCID:
PMC10731059
16.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811
PMCID:
PMC10690684
17.
Jana Domínguez-Carral, William Grant Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Sol Balsells, Jordi Muchart, Dunja Čokolić Petrović, Iván Espinoza, GNAO1-Study Group, Juan Dario Ortigoza-Escobar, Kirill A. Martemyanov
Ann Neurol.
Published in final edited form as: Ann Neurol. 2023 Nov; 94(5): 987–1004. Published online 2023 Aug 31. doi: 10.1002/ana.26758
PMCID:
PMC10681096
18.
Chenchen Yang, Ting Zhang, Aifeng Gong, Can Shi
BMC Womens Health. 2023; 23: 474. Published online 2023 Sep 4. doi: 10.1186/s12905-023-02615-6
PMCID:
PMC10478186
19.
Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu
J Med Genet. 2023 Aug; 60(8): 776–783. Published online 2022 Dec 12. doi: 10.1136/jmg-2022-108865
PMCID:
PMC10439262
20.
Goutam Dey, Rashmi Bharti, Chad Braley, Ravi Alluri, Emily Esakov, Katie Crean-Tate, Keith McCrae, Amy Joehlin-Price, Peter G. Rose, Justin Lathia, Zihua Gong, Ofer Reizes
J Ovarian Res. 2023; 16: 122. Published online 2023 Jun 27. doi: 10.1186/s13048-023-01194-2
PMCID:
PMC10294509

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