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Items: 1 to 20 of 57

1.
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
2.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
3.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
4.
Daniel G. Calame, Isabella Herman, Aren E. Marshall, Reza Maroofian, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sergio Sousa, Somayeh Bakhtiari, Yoko A. Ito, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa T. Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W. Saadi, Maha S. Zaki, David L. Skidmore, Matthew Osmond, Thiago Oliveira Silva, Henry Houlden, David Murphy, Ehsan Ghayoorarimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas A. Morales Saute, Adeline Vanderver, Davut Pehlivan, Dana Marafi, James R. Lupski
Ann Neurol.
Published in final edited form as: Ann Neurol. 2022 Aug; 92(2): 304–321. Published online 2022 May 28. doi: 10.1002/ana.26381
PMCID:
PMC10054521
5.
Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Am J Hum Genet. 2022 Dec 1; 109(12): 2270–2282. Published online 2022 Nov 10. doi: 10.1016/j.ajhg.2022.10.007
PMCID:
PMC9748253
6.
Erik Rosenhahn, Thomas J. O’Brien, Maha S. Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S. Alkuraya, Mais O. Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S. Alamri, Ayat H. Al Safar, Dalal K. Bubshait, Nada F. Alahmady, Joseph G. Gleeson, Mohamed S. Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P. Correia, Anna Wredenberg, Shahryar Alavi, Seyed M. Seyedhassani, Mahya Ebrahimi Nasab, Haytham Hussien, Tarek E.I. Omar, Ines Harzallah, Renaud Touraine, Homa Tajsharghi, Heba Morsy, Henry Houlden, Mohammad Shahrooei, Maryam Ghavideldarestani, Ghada M.H. Abdel-Salam, Annalaura Torella, Mariateresa Zanobio, Gaetano Terrone, Nicola Brunetti-Pierri, Abdolmajid Omrani, Julia Hentschel, Johannes R. Lemke, Heinrich Sticht, Rami Abou Jamra, Andre E.X. Brown, Reza Maroofian, Konrad Platzer
Am J Hum Genet. 2022 Aug 4; 109(8): 1421–1435. Published online 2022 Jul 12. doi: 10.1016/j.ajhg.2022.06.008
PMCID:
PMC9388382
7.
Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim Rattay, María-Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Thomas Klopstock, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, PREPARE consortium, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, Jonathan Baets
Mov Disord.
Published in final edited form as: Mov Disord. 2022 Jun; 37(6): 1175–1186. Published online 2022 Feb 12. doi: 10.1002/mds.28959
PMCID:
PMC9232883
8.
Shan Wang, Yaye Wang, Yue Wu, Jinru Zhang, Weilin Zhang, Chang Li, Xueqin Song
BMC Neurol. 2022; 22: 200. Published online 2022 May 30. doi: 10.1186/s12883-022-02706-1
PMCID:
PMC9150360
9.
Mariam S. Alharbi
Saudi Med J. 2021 Nov; 42(11): 1237–1242. doi: 10.15537/smj.2021.42.11.20210329
PMCID:
PMC9149744
10.
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177
PMCID:
PMC9037555
11.
Hesham Aldhalaan, Albandary AlBakheet, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah, Reema AlGhofaili, Kelly J. Cardona-Londoño, Khalid Omar Alahmadi, Hanan AlQudairy, Maha M. AlRasheed, Dilek Colak, Stefan T. Arold, Namik Kaya
Genes (Basel) 2022 Jan; 13(1): 92. Published online 2021 Dec 30. doi: 10.3390/genes13010092
PMCID:
PMC8774908
12.
Mika Hayakawa, Tomoyasu Matsubara, Yoko Mochizuki, Chisen Takeuchi, Motoyuki Minamitani, Masayuki Imai, Kenjiro Kosaki, Tomio Arai, Shigeo Murayama
BMC Neurol. 2022; 22: 2. Published online 2022 Jan 3. doi: 10.1186/s12883-021-02514-z
PMCID:
PMC8722294
13.
Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M. Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Shalini N. Jhangiani, Richard Person, Rhonda E. Schnur, Sheng Chih Jin, Kaya Bilguvar, Jennifer E. Posey, Sookyong Koh, Saghar G. Firouzabadi, Elham Alehabib, Abbas Tafakhori, Sahra Esmkhani, Richard A. Gibbs, Mahmoud M. Noureldeen, Maha S. Zaki, Dana Marafi, Hossein Darvish, Michael C. Kruer, James R. Lupski
Genet Med.
Published in final edited form as: Genet Med. 2021 Dec; 23(12): 2455–2460. Published online 2021 Aug 12. doi: 10.1038/s41436-021-01291-x
PMCID:
PMC8633036
14.
Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif ul Haque, Janine Altmüller, Holger Thiele, Muhammad Sajid Hussain, Sebahattin Cirak, Shahid Mahmood Baig, Peter Nürnberg
Genes (Basel) 2021 Oct; 12(10): 1494. Published online 2021 Sep 24. doi: 10.3390/genes12101494
PMCID:
PMC8535656
15.
Ruizhi Duan, Nebal Waill Saadi, Christopher M. Grochowski, Ghalia Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M. Fatih, Shalini N. Jhangiani, Zeynep C. Akdemir, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, Dana Marafi, James R. Lupski
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 1972–1980. Published online 2021 Apr 2. doi: 10.1002/ajmg.a.62192
PMCID:
PMC8445493
16.
Robert B Hufnagel, Gavin Arno, Nichole D Hein, Joshua Hersheson, Megana Prasad, Yvonne Anderson, Laura A Krueger, Louise C Gregory, Corinne Stoetzel, Thomas J Jaworek, Sarah Hull, Abi Li, Vincent Plagnol, Christi M Willen, Thomas M Morgan, Cynthia A Prows, Rashmi S Hegde, Saima Riazuddin, Gregory A Grabowski, Rudy J Richardson, Klaus Dieterich, Taosheng Huang, Tamas Revesz, J P Martinez-Barbera, Robert A Sisk, Craig Jefferies, Henry Houlden, Mehul T Dattani, John K Fink, Helene Dollfus, Anthony T Moore, Zubair M Ahmed
J Med Genet.
Published in final edited form as: J Med Genet. 2015 Feb; 52(2): 85–94. Published online 2014 Dec 5. doi: 10.1136/jmedgenet-2014-102856
PMCID:
PMC8108008
17.
Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F. Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
J Neurol. 2020; 267(12): 3643–3649. Published online 2020 Jul 12. doi: 10.1007/s00415-020-10059-3
PMCID:
PMC7674332
18.
Zongcheng Lin, Fei Xie, Marina Triviño, Tao Zhao, Frederik Coppens, Lieven Sterck, Maurice Bosch, Vernonica E. Franklin-Tong, Moritz K. Nowack
Curr Biol.
Published in final edited form as: Curr Biol. 2022 May 9; 32(9): 1909–1923.e5. Published online 2022 Mar 21. doi: 10.1016/j.cub.2022.02.072
PMCID:
PMC7612714
19.
Stephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, Maria Bonsignore, Valentina Ferrazzoli, Gabriella Di Rosa, Henry Houlden
J Genet.
Published in final edited form as: J Genet. 2019 Dec 1; 98: 108. Published online 2019 Nov 22. doi: 10.1007/s12041-019-1155-5
PMCID:
PMC7116628
20.
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou
Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374
PMCID:
PMC6935753

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