Search Results - Christopher J. Yuskaitis
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Megalencephaly and Macrocephaly by Kellen D. Winden, Christopher J. Yuskaitis, Annapurna Poduri
Published 2015Artigo -
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A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility by Christopher J. Yuskaitis, Brandon Jones, Rachel L. Wolfson, Chloe E. Super, Sameer C. Dhamne, Alexander Rotenberg, David M. Sabatini, Mustafa Şahin, Annapurna Poduri
Published 2017Artigo -
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<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy by Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco M. Lasorsa, Princess C. Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Hill, Kutay Deniz Atabay, Brenda J. Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M. Kabiraj, Sanjeev V. Kothare, Tommy Stödberg, Amy McTague, Manju A. Kurian, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh
Published 2013Artigo -
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Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals by Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig, Jing Gan, Shiva Ganesan, Michael C. Kaufman, Colin A. Ellis, David Lewis‐Smith, Peter D. Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Góes, Christelle Moufawad El Achkar, Jan H Doering, Francesca Furia, Ángeles García‐Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik, Hanna C. A. Lammertse, Jeehun Lee, Alexandra T. Mackie, Mala Misra‐Isrie, Heather E. Olson, Emma Sexton, Beth Rosen Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke M. van Haelst, Christopher J. Yuskaitis, Sarah Weckhuysen, Benjamin L. Prosser, Charlene Son Rigby, Scott Demarest, Samuel R. Pierce, Yuehua Zhang, Rikke S. Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig
Published 2021Artigo -
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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy by Hyun Yong Koh, Lacey Smith, Kimberly Wiltrout, Archana Podury, Nitish Chourasia, Alissa M. D’Gama, Meredith Park, Devon Knight, Emma Sexton, Julia Koh, Brandon T. Oby, Rebecca Pinsky, Diane D. Shao, Courtney E. French, Wanqing Shao, Shira Rockowitz, Piotr Sliz, Bo Zhang, Sonal Mahida, Christelle Moufawad El Achkar, Christopher J. Yuskaitis, Heather E. Olson, Beth Rosen Sheidley, Annapurna Poduri, Elizabeth Barkoudah, Ann M. Bergin, Miya E. Bernson‐Leung, Elizabeth Binney, Jeffrey Bolton, Stephanie Donatelli, Darius Ebrahimi‐Fakhari, Mark Gorman, Chellamani Harini, Divya Jayaraman, Agnieszka Kielian, Lauren LaFortune, Kerri L. LaRovere, Mark H. Libenson, David N. Lieberman, Tobias Loddenkemper, Candice Marti, Anna Minster, Kate Mysak, Ann Paris, Archana A. Patel, Phillip L. Pearl, Jurriaan M. Peters, A Gomes Pinto, Peter Raffalli, Alexander Rotenberg, Catherine L. Salussolia, Rebecca Sarvendram, Hannah Shapiro, Janet S. Soul, Sarah Spence, Karen Spencer, Robert C. Stowe, Coral M. Stredny, Masanori Takeoka, Molly Tracy, Sara Trowbridge, Melissa Tsuboyama, David K. Urion
Published 2023Artigo -
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De novo mutations in epileptic encephalopathies by Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy A. Glauser, David B. Goldstein, Yujun Han, Erin L. Heinzen, Yuki Hitomi, Katherine B. Howell, Michael Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Yi Lü, Maura R.Z. Madou, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Ruth Ottman, Slavé Petrovski, Annapurna Poduri, Elizabeth K. Ruzzo, Ingrid E. Scheffer, Elliott H. Sherr, Christopher J. Yuskaitis, Bassel Abou‐Khalil, Brian K. Alldredge, Jocelyn F. Bautista, Alex Boro, Gregory D. Cascino, D. Consalvo, Patricia K. Crumrine, Orrin Devinsky, Miquel Fiol, Nathan B. Fountain, Jacqueline A. French, Daniel Friedman, Eric B. Geller, Simon Glynn, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta M. Joshi, Andrés M. Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Shannon M. McGuire, Paul Motika, Edward J. Novotny, Juliann Paolicchi, Jack M. Parent, Kristen Park, Renée A. Shellhaas, Jerry J. Shih, Rani K. Singh, Joseph Sirven, Michael C. Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith Weisenberg, Peter Widdess‐Walsh, Melodie R. Winawer
Published 2013Artigo -
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The landscape of epilepsy-related GATOR1 variants by Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaëtan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Édouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Sanjay M. Sisodiya, Simona Balestrini, Natasha E. Schoeler, Laura Hernandez‐Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, C. L. P. Deckers, Bianca Berghuis, Ilse Wegner, Erik H. Niks, Floor E. Jansen, Kees P. J. Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, M. Jacquemont, Caroline Nava, Eric LeGuern, Sophie Julia, Antonio Gambardella, G. D’Orsi, Giovanni Crichiutti, Laurence Faivre, Véronique Darmency, Barbora Beňová, Pavel Kršek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartoloméi, Anne Lépine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard‐Mousnier, Julien Thévenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller‐Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostásy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac
Published 2018Artigo -
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia by Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, Kathrin Eberhardt, Barbara Brechmann, M. L. ZIEGLER, Dana M. Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Daniel Ebrahimi‐Fakhari, Toni S. Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David Bearden, Shenela Lakhani, Devorah Segal, Anaita Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth J. Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O. Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayşe Aksoy, Hélène Verhelst, Mauricio R. Delgado, Radka Kremlíková Pourová, Abdelrahim A. Sadek, Nour Elkhateeb, Lubov Blumkin, Alejandro Brea‐Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Elizabeth Lim-Melia, Nur Aydınli̇, Yasemin Alanay, Omnia Fathy El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, M Guillot, Steven P. Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah Alamri, Adel Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna Jansen, Stefanie Brock, Agathe Roubertie, Basil T. Darras, Pankaj B. Agrawal, Filippo M. Santorelli, Joseph G. Gleeson, Maha S. Zaki, Sarah Sheikh, James T. Bennett, Mustafa Şahin
Published 2019Artigo
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