Search Results - Hirofumi Kusumoto

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  1. 1
    Functional Evaluation of a De Novo <i>GRIN2A</i> Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy

    Functional Evaluation of a De Novo <i>GRIN2A</i> Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy by Wenjuan Chen, Anel Tankovic, Pieter B. Burger, Hirofumi Kusumoto, Stephen F. Traynelis, Hongjie Yuan

    Published 2017
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  2. 2
    A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

    A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia by Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil Shaulsky, Chun Hu, Stephen F. Traynelis, Hongjie Yuan, Yuwu Jiang

    Published 2017
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  3. 3
    An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups

    An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups by Riley E. Perszyk, Brooke M. Katzman, Hirofumi Kusumoto, Steven A. Kell, Matthew P. Epplin, Yesim A. Tahirovic, Rhonda L. Moore, David S. Menaldino, Pieter B. Burger, Dennis C. Liotta, Stephen F. Traynelis

    Published 2018
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  4. 4
    Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

    Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains by Sharon A. Swanger, Wenjuan Chen, Gordon Wells, Pieter B. Burger, Anel Tankovic, Subhrajit Bhattacharya, Katie L. Strong, Chun Hu, Hirofumi Kusumoto, Jing Zhang, David R. Adams, J Gordon Millichap, Slavé Petrovski, Stephen F. Traynelis, Hongjie Yuan

    Published 2016
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  5. 5
    Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

    Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology by Kevin K. Ogden, Wenjuan Chen, Sharon A. Swanger, Miranda J. McDaniel, Linlin Z. Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J. Kosobucki, Anthony J. Schulien, Zhuocheng Su, Joseph Pecha, Subhrajit Bhattacharya, Slavé Petrovski, Adam E. Cohen, Elias Aizenman, Stephen F. Traynelis, Hongjie Yuan

    Published 2017
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  6. 6
    De novo<i>GRIN</i>variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases

    De novo<i>GRIN</i>variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases by Jia Li, Jin Zhang, Weiting Tang, Ruth Mizu, Hirofumi Kusumoto, Wenshu XiangWei, Yuchen Xu, Wenjuan Chen, Johansen Amin, Chun Hu, Varun Kannan, Stephanie Keller, William R. Wilcox, Johannes R. Lemke, Scott J. Myers, Sharon A. Swanger, Lonnie P. Wollmuth, Slavé Petrovski, Stephen F. Traynelis, Hongjie Yuan

    Published 2019
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  7. 7
    GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

    GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers by Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González, Eric D. Marsh, Lifeng Tian, Elizabeth M. McCormick, Gabrielle J. Kosobucki, Wenjuan Chen, Anthony J. Schulien, Rosetta Chiavacci, Anel Tankovic, Claudia Naase, F Brueckner, Celina von Stülpnagel-Steinbeis, Chun Hu, Hirofumi Kusumoto, Ulrike B. S. Hedrich, Gina E. Elsen, Konstanze Hörtnagel, Elias Aizenman, Johannes R. Lemke, Hákon Hákonarson, Stephen F. Traynelis, Marni J. Falk

    Published 2016
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  8. 8
    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy by Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, Subhrajit Bhattacharya, Gaëtan Lesca, Sylvie Nguyen, Katherine L. Helbig, Jean‐Marie Cuisset, Christina Fenger, Dragan Marjanović, Elisabeth Schuler, Ye Wu, Xinhua Bao, Yuehua Zhang, Nina Dirkx, An‐Sofie Schoonjans, Steffen Syrbe, Scott J. Myers, Annapurna Poduri, Elias Aizenman, Stephen F. Traynelis, Johannes R. Lemke, Hongjie Yuan, Yuwu Jiang

    Published 2019
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  9. 9
    De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

    De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor by Yuchen Xu, Rui Song, Riley E. Perszyk, Wenjuan Chen, Sukhan Kim, Kristen Park, James P. Allen, Kelsey A. Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D. McDaniels, Rehan Sheikh, Ruth Mizu, Manish Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gaitanis, Jennifer A. Sullivan, Vandana Shashi, Slavé Petrovski, Robin‐Tobias Jauss, Hyun Kyung Lee, Xiuhua Bozarth, David R. Lynch, Ingo Helbig, Tyler Mark Pierson, Cornelius F. Boerkoel, Scott J. Myers, Johannes R. Lemke, Tim A. Benke, Hongjie Yuan, Stephen F. Traynelis

    Published 2024
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  10. 10
    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz

    Published 2017
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  11. 11
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects by Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Published 2017
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