Torthaí cuardaigh - Katrine M. Johannesen

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  1. 1
    Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

    Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers de réir Rikke S. Møller, Katrine M. Johannesen

    Foilsithe / Cruthaithe 2015
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  2. 2
    Lemierre’s syndrome: current perspectives on diagnosis and management

    Lemierre’s syndrome: current perspectives on diagnosis and management de réir Katrine M. Johannesen, Uffe Bødtger

    Foilsithe / Cruthaithe 2016
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  3. 3
    Utility of genetic testing for therapeutic decision‐making in adults with epilepsy

    Utility of genetic testing for therapeutic decision‐making in adults with epilepsy de réir Katrine M. Johannesen, Natalya Nikanorova, Dragan Marjanović, Agnieszka Pavbro, Line H.G. Larsen, Guido Rubboli, Rikke S. Møller

    Foilsithe / Cruthaithe 2020
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  4. 4
    Early mortality in SCN8A -related epilepsies

    Early mortality in SCN8A -related epilepsies de réir Katrine M. Johannesen, Elena Gardella, Ingrid E. Scheffer, Katherine B. Howell, Douglas M. Smith, Ingo Helbig, Rikke S. Møller, Guido Rubboli

    Foilsithe / Cruthaithe 2018
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  5. 5
    L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

    L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants de réir Ilona Krey, Sarah von Spiczak, Katrine M. Johannesen, Christiane Hikel, Gerhard Kurlemann, Hiltrud Muhle, Diane Beysen, Tobias Dietel, Rikke S. Møller, Johannes R. Lemke, Steffen Syrbe

    Foilsithe / Cruthaithe 2022
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  6. 6
    Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability

    Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability de réir Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg, Katherine L. Helbig, Christina Engel Hoei‐Hansen, Mahmoud Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C. Schneider, Katrine M. Johannesen, Gerhard Kurlemann, Elena Gardella, Felicitas Becker, Yvonne G. Weber, Jan Benda, Rikke S. Møller, Holger Lerche

    Foilsithe / Cruthaithe 2018
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  7. 7
    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies de réir Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. Johannesen, Elena Gardella, Julia Jacobs, Gaëtan Lesca, Zeynep Gokce‐Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger‐Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring

    Foilsithe / Cruthaithe 2022
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  8. 8
    Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

    Predicting functional effects of missense variants in voltage-gated sodium and calcium channels de réir Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May, Katrine M. Johannesen, Stephan Lauxmann, Johannes R. Lemke, Rikke S. Møller, Eduardo Pérez‐Palma, Ute I. Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J. Campbell, Hao‐Ran Wang, Jen Q. Pan, Mark J. Daly

    Foilsithe / Cruthaithe 2020
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  9. 9
    Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

    Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants de réir Dina Buitrago Silva, Marena Trinidad, Alicia Ljungdahl, Jezrael L. Revalde, Geoffrey Y. Berguig, W.E. Wallace, C. Patrick, Lorenzo Bomba, Michelle R. Arkin, Shan Dong, Karol Estrada, Keino Hutchinson, Jonathan H. LeBowitz, Avner Schlessinger, Katrine M. Johannesen, Rikke S. Møller, Kathleen M. Giacomini, Steven Froelich, Stephan Sanders, Arthur Wüster

    Foilsithe / Cruthaithe 2024
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  10. 10
    Current knowledge of SLC6A1-related neurodevelopmental disorders

    Current knowledge of SLC6A1-related neurodevelopmental disorders de réir Kimberly Goodspeed, Eduardo Pérez‐Palma, Sumaiya Iqbal, Dominique D. Cooper, Annalisa Scimemi, Katrine M. Johannesen, Arthur Stefanski, Scott Demarest, Katherine L. Helbig, Jing‐Qiong Kang, Frances C. Shaffo, Brandon Prentice, Catherine A. Brownstein, Byungchan Lim, Ingo Helbig, Emily de los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J. Campbell, Rikke S. Møller, Amber Freed, Dennis Lal

    Foilsithe / Cruthaithe 2020
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  11. 11
    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy

    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy de réir Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja Kristine Selmer, Barbro Stadheim, H. W. C. DAVIS, Charlotte Peinhardt, Mahmoud Koko, Rohini Coorg, Steffen Syrbe, Astrid Bertsche, Teresa Santiago‐Sim, Tue Diemer, Christina Fenger, Konrad Platzer, Evan E. Eichler, Holger Lerche, Johannes R. Lemke, Mary Chebib, Rikke S. Møller

    Foilsithe / Cruthaithe 2021
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  12. 12
    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome

    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome de réir Jan Larsen, Katrine M. Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibæk, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu, Bernd A. Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael A. Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels Tommerup, Ulrich Stephani, Renzo Guerrini, Morten Dunø, Helle Hjalgrim, Deb K. Pal, Ingo Helbig, Rikke S. Møller

    Foilsithe / Cruthaithe 2015
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  13. 13
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy de réir Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    Foilsithe / Cruthaithe 2018
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  14. 14
    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice de réir Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael Ghanty, Katrine M. Johannesen, Christina Fenger, Stéphanie Schorge, David Báez-Nieto, Hao‐Ran Wang, Andrew S. Allen, Jen Q. Pan, Holger Lerche, Henrike Heyne, Joseph D. Symonds, Sameer M. Zuberi, Stephan Sanders, Beth Rosen Sheidley, Dana Craiu, Heather E. Olson, Sarah Weckhuysen, Peter M. DeJonge, Ingo Helbig, Hilde Van Esch, Tiffany Busa, M. Milh, Bertrand Isidor, Christel Depienne, Annapurna Poduri, Arthur J. Campbell, Jordane Dimidschstein, Rikke S. Møller, Dennis Lal

    Foilsithe / Cruthaithe 2020
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  15. 15
    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies de réir Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, María J. Miranda, Muhammad Farooq, Jens Erik Nielsen, Lene Lavard Svendsen, Ditte B. Kjelgaard, Karen Markussen Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid Mahmood Baig, Uzma Abdullah, Alfred Peter Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanović, Lana I.K. Al-Zehhawi, Sofia J. Peñalva, B Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K. Pal, Hans A. Dahl

    Foilsithe / Cruthaithe 2016
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  16. 16
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> de réir Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

    Foilsithe / Cruthaithe 2017
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  17. 17
    Phenotypic spectrum of <i>GABRA1</i>

    Phenotypic spectrum of <i>GABRA1</i> de réir Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne G. Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H.G. Larsen, Hans A. Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Abdallah F. Elias, Cindy Hudson, Katherine L. Helbig, Susanne Schubert‐Bast, Maria Rosaria Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman‐Zacharska, Hande Çağlayan, Ingo Helbig, José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic

    Foilsithe / Cruthaithe 2016
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  18. 18
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy de réir Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    Foilsithe / Cruthaithe 2019
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  19. 19
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations de réir Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Foilsithe / Cruthaithe 2018
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  20. 20
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders de réir Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaëtan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot‐Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, María J. Miranda, Maja Hempel, Eva H. Brilstra, Nine Knoers, Nienke E. Verbeek, Marjan van Kempen, Kees P. J. Braun, Grazia M.S. Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller

    Foilsithe / Cruthaithe 2017
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