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Items: 1 to 20 of 129

1.
Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney
Epilepsia Open. 2023 Jun; 8(2): 623–632. Published online 2023 Apr 24. doi: 10.1002/epi4.12747
PMCID:
PMC10235173
2.
Hannah E. Snyder, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Robyn Whitney
Genes (Basel) 2024 Mar; 15(3): 266. Published online 2024 Feb 21. doi: 10.3390/genes15030266
PMCID:
PMC10970414
3.
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
Genes (Basel) 2024 Mar; 15(3): 350. Published online 2024 Mar 11. doi: 10.3390/genes15030350
PMCID:
PMC10970303
4.
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
J Neurodev Disord. 2024; 16: 13. Published online 2024 Mar 27. doi: 10.1186/s11689-024-09528-x
PMCID:
PMC10967201
5.
Karen L. Oliver, Ingrid E. Scheffer, Mark F. Bennett, Bronwyn E. Grinton, Melanie Bahlo, Samuel F. Berkovic
Epilepsia. 2023 May; 64(5): 1368–1375. Published online 2023 Mar 9. doi: 10.1111/epi.17547
PMCID:
PMC10952165
6.
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
7.
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Orphanet J Rare Dis. 2024; 19: 107. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03065-5
PMCID:
PMC10921669
8.
Karen G. C. B. Bindels-de Heus, Doesjka A. Hagenaar, Sabine E. Mous, Ilonka Dekker, Daniëlle C. M. van der Kaay, Gerthe F. Kerkhof, Ype Elgersma, Henriette A. Moll, Marie-Claire Y. de Wit
Eur J Pediatr. 2024; 183(1): 103–111. Published online 2023 Oct 13. doi: 10.1007/s00431-023-05231-6
PMCID:
PMC10857954
9.
Jihong Hu, Juan Liu, Chunguang Guo, Yaqin Duan, Chunlei Liu, Yaqiong Tan, Ying Pan
Mol Genet Genomic Med. 2024 Jan; 12(1): e2322. Published online 2023 Nov 8. doi: 10.1002/mgg3.2322
PMCID:
PMC10767576
10.
Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Eric D. Marsh, Bernhard Suter, Elia Pestana-Knight, Heather E. Olson, Dana Price, Judith Weisenberg, Rajsekar Rajaraman, Gina VanderVeen, Tim A. Benke, Jenny Downs, Scott Demarest
Epilepsy Res.
Published in final edited form as: Epilepsy Res. 2023 Nov; 197: 107231. Published online 2023 Sep 20. doi: 10.1016/j.eplepsyres.2023.107231
PMCID:
PMC10760432
11.
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
12.
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal
Brain. 2023 Dec; 146(12): 5198–5208. Published online 2023 Aug 30. doi: 10.1093/brain/awad292
PMCID:
PMC10689929
13.
Liping Zhang, Xu‐Ying Li, Fanxi Xu, Lehong Gao, Zhanjun Wang, Xianling Wang, Xian Li, Mengyu Liu, Junge Zhu, Tingyan Yao, Jing Ye, Xiao‐Hong Qi, Yaqing Wang, Guoguang Zhao, Chaodong Wang, The Xuanwu Molecular Counselling Group for Neurogenetic Diseases
Mol Genet Genomic Med. 2023 Nov; 11(11): e2243. Published online 2023 Jul 24. doi: 10.1002/mgg3.2243
PMCID:
PMC10655525
14.
D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann
Orphanet J Rare Dis. 2023; 18: 349. Published online 2023 Nov 9. doi: 10.1186/s13023-023-02959-0
PMCID:
PMC10637019
15.
Sanghoon Lee, Bo Ram Kim, Young Ok Kim
Sci Prog. 2022 Oct-Dec; 105(4): 00368504221131233. Published online 2022 Oct 11. doi: 10.1177/00368504221131233
PMCID:
PMC10481157
16.
Congjie Chen, Ningning Chen, Li Xie, Yuanyuan Luo, Jiannan Ma, Tingsong Li
Epilepsia Open. 2023 Sep; 8(3): 1133–1141. Published online 2023 Jul 28. doi: 10.1002/epi4.12794
PMCID:
PMC10472363
17.
Congjie Chen, Yuanyuan Luo, Xueqing Hou, Tingsong Li
Brain Behav. 2023 Aug; 13(8): e3178. Published online 2023 Jul 21. doi: 10.1002/brb3.3178
PMCID:
PMC10454333
18.
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2
PMCID:
PMC10329570
19.
Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Kuniaki Saito, Atsushi Fujita, Naomichi Matsumoto
Life Sci Alliance. 2023 Aug; 6(8): e202302025. Published online 2023 Jun 7. doi: 10.26508/lsa.202302025
PMCID:
PMC10248215
20.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M Rho, Alice W Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S Verhoeven, Hilde M H Braakman, Bert van der Zwaag, Aster V E Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Grønborg, Stephen W Scherer, Jennifer Howe, Walid Fazeli, Katherine B Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Bénédicte Gerard, Sara Matricardi, Claudia M Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M Savatt, Karen Müller-Schlüter, Haim Bassan, Artem Borovikov, Marie Cecile Nassogne, Anne Destrée, An Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen Hann Tan, Heather E Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L Helbig, Ingo Helbig, Mark P Fitzgerald, Ethan M Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brünger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O Heyne, Gaetan Lesca, Ulrike B S Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S Møller
Brain. 2022 Sep; 145(9): 2991–3009. Published online 2021 Aug 25. doi: 10.1093/brain/awab321
PMCID:
PMC10147326

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