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Items: 1 to 20 of 500

1.
Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, Anelisa Gollo Dantas, Maria Isabel Melaragno, Chong Ae Kim
Genes (Basel) 2024 May; 15(5): 595. Published online 2024 May 8. doi: 10.3390/genes15050595
PMCID:
PMC11121403
2.
Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
Neurogenetics. 2024; 25(2): 51–67. Published online 2024 Feb 9. doi: 10.1007/s10048-024-00749-9
PMCID:
PMC11076336
3.
Joohyun Park, Bianca R. Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B. Haack
J Med Genet.
Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 283–288. Published online 2019 Aug 22. doi: 10.1136/jmedgenet-2019-106273
PMCID:
PMC11074718
4.
Eli Matsell, Jens Peter Andersen, Robert S. Molday
Dis Model Mech. 2024 Jun 1; 17(6): dmm050546. Published online 2024 Apr 24. doi: 10.1242/dmm.050546
PMCID:
PMC11073571
5.
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino
Brain. 2024 May; 147(5): 1751–1767. Published online 2023 Dec 21. doi: 10.1093/brain/awad427
PMCID:
PMC11068110
6.
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
7.
Danijela Bataveljic, Helena Pivonkova, Vidian de Concini, Betty Hébert, Pascal Ezan, Sylvain Briault, Alexis-Pierre Bemelmans, Jacques Pichon, Arnaud Menuet, Nathalie Rouach
Nat Commun. 2024; 15: 3583. Published online 2024 Apr 27. doi: 10.1038/s41467-024-47681-y
PMCID:
PMC11055954
8.
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente
Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9
PMCID:
PMC11055696
9.
Nasrin Tamanna, Byung Kwon Pi, Ah Jin Lee, Sumaira Kanwal, Byung-Ok Choi, Ki Wha Chung
Genes (Basel) 2024 Apr; 15(4): 485. Published online 2024 Apr 11. doi: 10.3390/genes15040485
PMCID:
PMC11050279
10.
Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo
BMC Med Genomics. 2024; 17: 95. Published online 2024 Apr 20. doi: 10.1186/s12920-024-01883-x
PMCID:
PMC11032587
11.
Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, lllana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy
Acta Neuropathol Commun. 2024; 12: 62. Published online 2024 Apr 18. doi: 10.1186/s40478-024-01743-w
PMCID:
PMC11027339
12.
Yusen Qiu, Ying Xiong, Lulu Wang, Min Zhu, Dandan Tan, Daojun Hong
Ann Clin Transl Neurol. 2024 Apr; 11(4): 1067–1074. Published online 2024 Mar 4. doi: 10.1002/acn3.52037
PMCID:
PMC11021622
13.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee
Mol Genet Genomic Med. 2024 Apr; 12(4): e2430. Published online 2024 Apr 5. doi: 10.1002/mgg3.2430
PMCID:
PMC10997844
14.
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
15.
Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring
Mol Autism. 2024; 15: 12. Published online 2024 Apr 3. doi: 10.1186/s13229-024-00590-9
PMCID:
PMC10988830
16.
Lei Shen, Xiaokuang Ma, Yuanyuan Wang, Zhihao Wang, Yi Zhang, Hoang Quoc Hai Pham, Xiaoqun Tao, Yuehua Cui, Jing Wei, Dimitri Lin, Tharindumala Abeywanada, Swanand Hardikar, Levon Halabelian, Noah Smith, Taiping Chen, Dalia Barsyte-Lovejoy, Shenfeng Qiu, Yi Xing, Yanzhong Yang
Nat Commun. 2024; 15: 2809. Published online 2024 Apr 1. doi: 10.1038/s41467-024-47107-9
PMCID:
PMC10984984
17.
Sabrina Ehnert, Stefan Hauser, Holger Hengel, Philip Höflinger, Rebecca Schüle, Tobias Lindig, Jonathan Baets, Tine Deconinck, Peter de Jonghe, Tina Histing, Andreas K. Nüssler, Ludger Schöls, Tim W. Rattay
Sci Rep. 2024; 14: 7335. Published online 2024 Mar 27. doi: 10.1038/s41598-024-53057-5
PMCID:
PMC10973513
18.
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jiekai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M. Schlaeger, Shannan Ho Sui, Jonathan Göke, Xi He, Maria K. Lehtinen, Scott L. Pomeroy, Yang Shi
Nature. 2024; 627(8004): 594–603. Published online 2024 Feb 21. doi: 10.1038/s41586-024-07067-y
PMCID:
PMC10954547
19.
Lotten Ragnarsson, Zihan Zhang, Sooraj S. Das, Poanna Tran, Åsa Andersson, Vincent des Portes, Cecilia Desmettre Altuzarra, Ganaelle Remerand, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Gaetan Lesca, Victor Anggono, Irina Vetter, Angelo Keramidas
Epilepsia. 2023 Dec; 64(12): 3377–3388. Published online 2023 Oct 17. doi: 10.1111/epi.17776
PMCID:
PMC10952597
20.
Xianjun Xuan, Jie Ruan, Chunhong Wu, Yiyi Gao, Lingfei Li, Xiaoguang Lei
CNS Neurosci Ther. 2024 Mar; 30(3): e14425. Published online 2023 Nov 6. doi: 10.1111/cns.14425
PMCID:
PMC10948947

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