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Items: 1 to 20 of 159

1.
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
2.
Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu
BMC Pediatr. 2024; 24: 309. Published online 2024 May 6. doi: 10.1186/s12887-024-04779-y
PMCID:
PMC11071329
3.
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
4.
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
5.
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w
PMCID:
PMC10910770
6.
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
7.
Danyang Li, Bingbo Zhou, Xinyuan Tian, Xue Chen, Yupei Wang, Shengju Hao, Chuan Zhang, Ling Hui
Mol Genet Genomic Med. 2024 Jan; 12(1): e2327. Published online 2023 Nov 30. doi: 10.1002/mgg3.2327
PMCID:
PMC10767686
8.
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
9.
Laura Licchetta, Lucia Di Giorgi, Margherita Santucci, Lisa Taruffi, Carlotta Stipa, Raffaella Minardi, Valerio Carelli, Francesca Bisulli
Mol Genet Genomic Med. 2024 Jan; 12(1): e2311. Published online 2023 Dec 13. doi: 10.1002/mgg3.2311
PMCID:
PMC10767575
10.
Alexandra Jimenez-Armijo, Supawich Morkmued, José Tomás Ahumada, Naji Kharouf, Yvan de Feraudy, Gergo Gogl, Fabrice Riet, Karen Niederreither, Jocelyn Laporte, Marie Christine Birling, Mohammed Selloum, Yann Herault, Magali Hernandez, Agnès Bloch-Zupan
Sci Rep. 2024; 14: 445. Published online 2024 Jan 3. doi: 10.1038/s41598-023-50870-2
PMCID:
PMC10764811
11.
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
12.
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799
PMCID:
PMC10690702
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.
Hailan He, Huiwen Zhang, Hui Chen, Fang He, Fei Yin, Tobias Stauber, Xiaomin Zou, Jing Peng
CNS Neurosci Ther. 2023 Dec; 29(12): 4059–4069. Published online 2023 Jun 28. doi: 10.1111/cns.14329
PMCID:
PMC10651982
15.
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
16.
Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, Genomics England Research Consortium
Genet Med. 2023 Jan; 25(1): 76–89. doi: 10.1016/j.gim.2022.09.013
PMCID:
PMC10620943
17.
Henry Oppermann, Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T. Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M. Reis, Elena V. Semina, Miriam S. Reuter, Stephen W. Scherer, Maria Iascone, Denisa Weis, Christina R. Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B. Haack, Despoina C. Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R. Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M. Krawitz, Johannes R. Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
Eur J Hum Genet. 2023 Nov; 31(11): 1251–1260. Published online 2023 Aug 30. doi: 10.1038/s41431-023-01445-2
PMCID:
PMC10620399
18.
Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini
Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235
PMCID:
PMC10472491
19.
Pu Miao, Xueying Zhu, Wenqin Jin, Lingyan Yu, Yanfang Li, Ye Wang, Qunyan Su, Sha Xu, Shuang Wang, Jianhua Feng
Ann Clin Transl Neurol. 2023 Aug; 10(8): 1374–1382. Published online 2023 Jun 16. doi: 10.1002/acn3.51828
PMCID:
PMC10424658
20.
Jiwon Lee, Young Ok Kim, Byung Chan Lim, Jeehun Lee
Epilepsia Open. 2023 Jun; 8(2): 436–443. Published online 2023 Feb 20. doi: 10.1002/epi4.12708
PMCID:
PMC10235569

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