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Items: 1 to 20 of 98

1.
Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang Deng
Mol Genet Genomic Med. 2023 Dec; 11(12): e2269. Published online 2023 Aug 18. doi: 10.1002/mgg3.2269
PMCID:
PMC10724516
2.
Kim M Thalwitzer, Julie Xian, Danielle deCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan, James Goss, Charlene Son Rigby, Michael Boland, Ben Prosser, Sarah M Ruggiero, Steffen Syrbe, Ingo Helbig
Version 1. medRxiv. Preprint. 2023 Jun 28. doi: 10.1101/2023.06.26.23291892
PMCID:
PMC10327252
3.
Manuela Loi, Stefano Bastianini, Giulia Candini, Nicola Rizzardi, Giorgio Medici, Valentina Papa, Laura Gennaccaro, Nicola Mottolese, Marianna Tassinari, Beatrice Uguagliati, Chiara Berteotti, Viviana Lo Martire, Giovanna Zoccoli, Giovanna Cenacchi, Stefania Trazzi, Christian Bergamini, Elisabetta Ciani
Int J Mol Sci. 2023 Mar; 24(6): 5552. Published online 2023 Mar 14. doi: 10.3390/ijms24065552
PMCID:
PMC10059787
4.
Christiana Kontaxi, Daniela Ivanova, Elizabeth C. Davenport, Peter C. Kind, Michael A. Cousin
J Neurosci. 2023 Mar 15; 43(11): 2002–2020. doi: 10.1523/JNEUROSCI.1537-22.2023
PMCID:
PMC10027047
5.
Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei, Fahad A. Bashiri
Neurosciences (Riyadh) 2022 Oct; 27(4): 244–250. doi: 10.17712/nsj.2022.4.20220001
PMCID:
PMC9749570
6.
Christopher J. Yuskaitis, John R. Mytinger, Fiona M. Baumer, Bo Zhang, Shanshan Liu, Debopam Samanta, Shaun A. Hussain, Elissa G. Yozawitz, Cynthia G. Keator, Charuta Joshi, Rani K. Singh, Sonal Bhatia, Sonam Bhalla, Renée Shellhaas, Chellamani Harini, on behalf of the Pediatric Epilepsy Research Consortium
Neurology. 2022 Nov 29; 99(22): e2494–e2503. doi: 10.1212/WNL.0000000000201232
PMCID:
PMC9728034
7.
Qian-bei Guo, Li Zhan, Hai-yan Xu, Zhao-bing Gao, Yue-ming Zheng
Acta Pharmacol Sin. 2022 Dec; 43(12): 3139–3148. Published online 2022 Jul 27. doi: 10.1038/s41401-022-00955-x
PMCID:
PMC9712530
8.
Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
Brain. 2022 Nov; 145(11): 3816–3831. Published online 2022 Jun 13. doi: 10.1093/brain/awac210
PMCID:
PMC9679167
9.
Thusa Sabapathy, Riya Bansal, Lauren Bojorquez, Brenda Salley, Julie Grace Gianakon, Rose Gelineau-Morel, Sarah S. Nyp
J Dev Behav Pediatr.
Published in final edited form as: J Dev Behav Pediatr. 2022 Apr 1; 43(3): 176–179. Published online 2022 Jan 26. doi: 10.1097/DBP.0000000000001065
PMCID:
PMC9203908
10.
Shuang Hao, Qi Wang, Bin Tang, Zhenyu Wu, Tingting Yang, Jianrong Tang
J Neurosci. 2021 Oct 27; 41(43): 9031–9046. doi: 10.1523/JNEUROSCI.1010-21.2021
PMCID:
PMC8549531
11.
Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Timothy A. Benke, Annapurna Poduri
J Neurodev Disord. 2021; 13: 40. Published online 2021 Sep 16. doi: 10.1186/s11689-021-09384-z
PMCID:
PMC8447578
12.
Altynshash Jaxybayeva, Alissa Nauryzbayeva, Assem Khamzina, Meruert Takhanova, Assel Abilhadirova, Anastasia Rybalko, Kymbat Jamanbekova
Front Neurol. 2021; 12: 639317. Published online 2021 Jun 10. doi: 10.3389/fneur.2021.639317
PMCID:
PMC8222974
13.
Virender K. Gehlawat, Vandana Arya, Harish Bhardwaj, Narain D. Vaswani, Jaya S. Kaushik
J Family Med Prim Care. 2021 Jan; 10(1): 350–353. Published online 2021 Jan 30. doi: 10.4103/jfmpc.jfmpc_1405_20
PMCID:
PMC8132827
14.
Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev, Yin Y. Dong, Mary-Alice Abbott, Carla Asteggiano, Michael J. Bamshad, Eileen Barr, Jonathan A. Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K. Chung, Michael A. Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, William D. Graf, Stephanie Grunewald, Katherine Hammond, Natalie S. Hauser, George E. Hoganson, Kimberly M. Houck, Jennefer N. Kohler, Eva Morava, Austin A. Larson, Pengfei Liu, Sujana Madathil, Colleen McCormack, Naomi J.L. Meeks, Rebecca Miller, Kristin G. Monaghan, Deborah A. Nickerson, Timothy Blake Palculict, Gabriela Magali Papazoglu, Beth A. Pletcher, Ingrid E. Scheffer, Andrea Beatriz Schenone, Rhonda E. Schnur, Yue Si, Leah J. Rowe, Alvaro H. Serrano Russi, Rossana Sanchez Russo, Farouq Thabet, Allysa Tuite, María Mercedes Villanueva, Raymond Y. Wang, Richard I. Webster, Dorcas Wilson, Alice Zalan, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Lynne A. Wolfe, Jill A. Rosenfeld, Lindsay Rhodes, Hudson H. Freeze
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2020 Nov; 43(6): 1333–1348. Published online 2020 Aug 5. doi: 10.1002/jimd.12290
PMCID:
PMC7722193
15.
Devon L. Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, Kristin D. Kernohan, Anik St‐Denis, Nissan V. Baratang, Taila Hartley, Michael T. Geraghty, Julie Richer, Jacek Majewski, Eric Bareke, Andrea Guerin, Manuela Pendziwiat, Loren D. M. Pena, Hilde M. H. Braakman, Karen W. Gripp, Andrew C. Edmondson, Miao He, Rebecca C. Spillmann, Erik A. Eklund, Allan Bayat, Hugh J. McMillan, Kym M. Boycott, Philippe M. Campeau
J Inherit Metab Dis. 2020 Nov; 43(6): 1321–1332. Published online 2020 Aug 3. doi: 10.1002/jimd.12278
PMCID:
PMC7689772
16.
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Nat Commun. 2019; 10: 2506. Published online 2019 Jun 7. doi: 10.1038/s41467-019-10482-9
PMCID:
PMC6555845
17.
Cathryn J. Poulton, Rachel Schot, Sima Kheradmand Kia, Marta Jones, Frans W. Verheijen, Hanka Venselaar, Marie-Claire Y. de Wit, Esther de Graaff, Aida M. Bertoli-Avella, Grazia M.S. Mancini
Am J Hum Genet. 2011 Aug 12; 89(2): 265–276. doi: 10.1016/j.ajhg.2011.07.006
PMCID:
PMC3155199
18.
H L Archer, J Evans, S Edwards, J Colley, R Newbury‐Ecob, F O'Callaghan, M Huyton, M O'Regan, J Tolmie, J Sampson, A Clarke, J Osborne
J Med Genet. 2006 Sep; 43(9): 729–734. Published online 2006 Apr 12. doi: 10.1136/jmg.2006.041467
PMCID:
PMC2564572
19.
Konstantin H. Kostov, Hrisimir Kostov, Pål Gunnar Larsson, Oliver Henning, Kari Modalsli Aaberg, Arild Egge, Jukka Peltola, Morten Ingvar Lossius
Epilepsia Open. 2024 Apr; 9(2): 704–716. Published online 2024 Feb 6. doi: 10.1002/epi4.12908
PMCID:
PMC10984305
20.
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

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