Torthaí cuardaigh - Stephen Malone

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  1. 1
    Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody‐associated demyelination in children

    Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody‐associated demyelination in children de réir Sudarshini Ramanathan, Gina O’Grady, Stephen Malone, Claire G. Spooner, David A. Brown, Deepak Gill, Fabienne Brilot, Russell C. Dale

    Foilsithe / Cruthaithe 2018
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    Artigo
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  2. 2
    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i>

    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i> de réir Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy L. Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello‐Espinosa, Mark T. Mackay, Geoff Wallace, Michaela Waak, Jing Zhang, Cheng Yang, Stephen Malone, Yuehua Zhang, Heather C. Mefford, Ingrid E. Scheffer

    Foilsithe / Cruthaithe 2017
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    Artigo
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  3. 3
    International consensus definitions for infection‐triggered encephalopathy syndromes

    International consensus definitions for infection‐triggered encephalopathy syndromes de réir Hiroshi Sakuma, Terrence Thomas, Carly Debinski, Michael Eyre, Velda X. Han, Hannah Jones, Go Kawano, Vanessa Wan Mun Lee, Stephen Malone, Toyojiro Matsuishi, Shekeeb S. Mohammad, Takayuki Mōri, Hiroya Nishida, Margherita Nosadini, Jun‐ichi Takanashi, Masashi Mizuguchi, Ming Lim, Russell C. Dale

    Foilsithe / Cruthaithe 2024
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    Artigo
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  4. 4
    <scp>CSF</scp> neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in <scp>FIRES</scp> and other infection‐triggered encephalopathy syndromes

    <scp>CSF</scp> neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in <scp>FIRES</scp> and other infection‐triggered encephalopathy syndromes de réir Russell C. Dale, Terrence Thomas, Shrujna Patel, Velda X. Han, Kavitha Kothur, Christopher Troedson, Sachin Gupta, Deepak Gill, Stephen Malone, Michaela Waak, Sophie Calvert, Gopinath Subramanian, P Ian Andrews, Tejaswi Kandula, Manoj P. Menezes, Simone Ardern‐Holmes, Shekeeb S. Mohammad, Sushil Bandodkar, Jingya Yan

    Foilsithe / Cruthaithe 2023
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    Artigo
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  5. 5
    Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

    Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain de réir Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A. Damiano, Lara McQuillan, A. Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy L. Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J. Lockhart, Alexander Dobrovic, Ingrid E. Scheffer, Melanie Bahlo, Richard J. Leventer, Ryan Lister, Samuel F. Berkovic, Michael S. Hildebrand

    Foilsithe / Cruthaithe 2021
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    Artigo
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  6. 6
    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy de réir Costin Leu, Simona Balestrini, Bridget H. Maher, Laura Hernandez‐Hernandez, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha E. Schoeler, Jan Nový, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O’Regan, William Owen Pickrell, Rhys H. Thomas, Seo‐Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya

    Foilsithe / Cruthaithe 2015
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    Artigo
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  7. 7
    <i>SYNGAP1</i> encephalopathy

    <i>SYNGAP1</i> encephalopathy de réir Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle M. Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard F. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, Georg-Christoph Korenke, Conny M.A. van Ravenswaaij‐Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

    Foilsithe / Cruthaithe 2018
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    Artigo
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  8. 8
    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 de réir Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    Foilsithe / Cruthaithe 2013
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    Artigo
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  9. 9
    Rasmussen encephalitis tissue transfer program

    Rasmussen encephalitis tissue transfer program de réir Carol A. Kruse, Carlos A. Pardo, Adam L. Hartman, George I. Jallo, Eileen P.G. Vining, Joe Voros, William D. Gaillard, Judy Liu, Chima Oluigbo, Stephen Malone, Andrew Bleasel, Mark Dexter, Alex Micati, Tonicarlo Rodrigues Velasco, Hélio Rubens Machado, Anthony Martino, Adam Huang, B. Matt Wheatley, Gerald A. Grant, Tiziana Granata, Elena Freri, Rita Garbelli, Sookyong Koh, Douglas R. Nordli, Alexandre Rainha Campos, Brent R. O’Neill, Michael H. Handler, Kevin Chapman, Angus A. Wilfong, Daniel J. Curry, Amanda L. Yaun, Joseph R. Madsen, Matthew D. Smyth, Deanna Mercer, William Bingaman, A. Simon Harvey, Richard J. Leventer, Paul J. Lockhart, Greta Gillies, Kate Pope, Cole A. Giller, Yong D. Park, Amyn M. Rojiani, Suash J. Sharma, Patrick D. Jenkins, Spencer Tung, My N. Huynh, Thabiso W. Chirwa, Carlos Cepeda, Michael S. Levine, Julia W. Chang, Geoffrey C. Owens, Harry V. Vinters, Gary W. Mathern

    Foilsithe / Cruthaithe 2016
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    Carta
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  10. 10
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders de réir Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Foilsithe / Cruthaithe 2019
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    Artigo
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