検索結果 - Johannes R. Lemke

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  1. 1
    Hans Berger and 100 years electroencephalogram

    Hans Berger and 100 years electroencephalogram 著者: Johannes R. Lemke, Gerhard Kluger, Günter Krämer

    出版事項 2024
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    Artigo
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  2. 2
    <i>ABCA4</i>and<i>ROM1:</i>Implications for Modification of the<i>PRPH2</i>-Associated Macular Dystrophy Phenotype

    <i>ABCA4</i>and<i>ROM1:</i>Implications for Modification of the<i>PRPH2</i>-Associated Macular Dystrophy Phenotype 著者: Charlotte M. Poloschek, Michael Bach, Wolf A. Lagrèze, Esther Glaus, Johannes R. Lemke, Wolfgang Berger, John Neidhardt

    出版事項 2010
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    Artigo
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  3. 3
    Process intensification in the biopharma industry: Improving efficiency of protein manufacturing processes from development to production scale using synergistic approaches

    Process intensification in the biopharma industry: Improving efficiency of protein manufacturing processes from development to production scale using synergistic approaches 著者: Dirk Müller, Lukas Klein, Johannes R. Lemke, Markus Schulze, Thomas Kruse, Martin Saballus, Jens Matuszczyk, Markus Kampmann, Gerben Zijlstra

    出版事項 2021
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    Artigo
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  4. 4
    Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs

    Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs 著者: Tim A. Benke, Kristen Park, Ilona Krey, Chad R. Camp, Rui Song, Amy J. Ramsey, Hongjie Yuan, Stephen F. Traynelis, Johannes R. Lemke

    出版事項 2021
    全文の入手
    Revisão
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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 著者: 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

    出版事項 2022
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    Artigo
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  6. 6
    Classification of missense variants in the <i>N</i>-methyl-<scp>d</scp>-aspartate receptor <i>GRIN</i> gene family as gain- or loss-of-function

    Classification of missense variants in the <i>N</i>-methyl-<scp>d</scp>-aspartate receptor <i>GRIN</i> gene family as gain- or loss-of-function 著者: Scott J. Myers, Hongjie Yuan, Riley E. Perszyk, Jing Zhang, Sukhan Kim, Kelsey A. Nocilla, James P. Allen, Jennifer Bain, Johannes R. Lemke, Dennis Lal, Tim A. Benke, Stephen F. Traynelis

    出版事項 2023
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    Artigo
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  7. 7
    Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene

    Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene 著者: Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topçu, Sarenur Gökben, Füsun Alehan, Johannes R. Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna‐Elina Lehesjoki

    出版事項 2012
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    Artigo
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  8. 8
    Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals

    Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals 著者: Robert Künzel, H. Faust, Linnaeus Bundalian, Matthias Blüher, Mariami Jasaszwili, Anna Kirstein, Albrecht Kobelt, Antje Körner, Denny Popp, E. Wenzel, Rami Abou Jamra, Johannes R. Lemke, Torsten Schöneberg, Robert H. Stein, Antje Garten, Diana Le Duc

    出版事項 2025
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    Artigo
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  9. 9
    Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

    Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy 著者: Henrike Heyne, Mykyta Artomov, Florian Battke, Claudia Bianchini, Douglas R. Smith, Nora Liebmann, Vasisht Tadigotla, Christine M. Stanley, Dennis Lal, Heidi L. Rehm, Holger Lerche, Mark J. Daly, Ingo Helbig, Saskia Biskup, Yvonne G. Weber, Johannes R. Lemke

    出版事項 2019
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    Artigo
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  10. 10
    Current practice in diagnostic genetic testing of the epilepsies

    Current practice in diagnostic genetic testing of the epilepsies 著者: Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel H. Lowenstein, Rikke S. Møller, Annapurna Poduri, Lynette G. Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne G. Weber, Johannes R. Lemke

    出版事項 2022
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    Artigo
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  11. 11
    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities 著者: Sonja Martin, Adam Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J. Larsen, Lars Kjærsgaard Hansen, Ali Fatemi, Julie S. Cohen, Johannes R. Lemke, Kristina P. Sørensen, Katherine L. Helbig, Davor Lessel, Rami Abou Jamra

    出版事項 2017
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    Artigo
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  12. 12
    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy 著者: Johannes R. Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Victoria L. Harvey, Victoria M. James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen

    出版事項 2013
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    Artigo
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  13. 13
    <i>De novo GABRG2</i>mutations associated with epileptic encephalopathies

    <i>De novo GABRG2</i>mutations associated with epileptic encephalopathies 著者: Dingding Shen, Ciria C. Hernández, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth R. Shiedley, Alex Rotenberg, Alexandre Datta, Steffen Leiz, Steffi Patzer, Rainer Boor, K. Ramsey, Ethan M. Goldberg, Ingo Helbig, Xilma R. Ortiz‐González, Johannes R. Lemke, Eric D. Marsh, Robert L. Macdonald

    出版事項 2016
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    Artigo
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  14. 14
    Diagnostic value of partial exome sequencing in developmental disorders

    Diagnostic value of partial exome sequencing in developmental disorders 著者: Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert, Johannes R. Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Maximilian Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schröck, Nataliya Di Donato, Andreas Rump

    出版事項 2018
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    Artigo
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  15. 15
    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 著者: 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

    出版事項 2019
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    Artigo
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  16. 16
    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 著者: 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

    出版事項 2020
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    Artigo
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  17. 17
    The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

    The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals 著者: Pia Zacher, Patrick May, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne‐Christin Teichmann, Rami Abou Jamra, Johannes R. Lemke

    出版事項 2021
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    Artigo
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  18. 18
    Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

    Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons 著者: Chad R. Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh, Sarah M. Ruggiero, Peter D. Galer, Kristen Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A. Benke, Johannes R. Lemke, Kenneth A. Pelkey, Chris J. McBain, Stephen F. Traynelis

    出版事項 2023
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    Artigo
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  19. 19
    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy 著者: Lynne Rumping, Benjamin Büttner, Oliver Maier, Holger Rehmann, Maarten H. Lequin, Jan-Ulrich Schlump, Bernhard Schmitt, Birgit G. M. Schiebergen-Bronkhorst, Hubertus C.M.T. Prinsen, M. Losa, Ralph Fingerhut, Johannes R. Lemke, Fried Zwartkruis, Roderick H.J. Houwen, Judith Jans, Nanda M. Verhoeven‐Duif, Peter M. van Hasselt, Rami Abou Jamra

    出版事項 2018
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    Artigo
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  20. 20
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures 著者: Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    出版事項 2019
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    Artigo
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