Søgeresultater - Niklas Schwarz

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  1. 1
    Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures

    Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures af Niklas Schwarz, Ulrike B. S. Hedrich, Hannah Schwarz, Harshad Pannikkaveettil Ashraf, Nele Dammeier, Eva Auffenberg, Francesco Bedogni, Jürgen Honegger, Holger Lerche, Thomas V. Wuttke, Henner Koch

    Udgivet 2017
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  2. 2
    Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

    Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease af Niklas Schwarz, Betül Seher Uysal, Marc Welzer, Jacqueline C Bahr, Nikolas Layer, Heidi Löffler, Kornelijus Stanaitis, Harshad PA, Yvonne G. Weber, Ulrike B. S. Hedrich, Jürgen Honegger, Angelos Skodras, Albert J. Becker, Thomas V. Wuttke, Henner Koch

    Udgivet 2019
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  3. 3
    Clinical and genetic spectrum of SCN2A-associated episodic ataxia

    Clinical and genetic spectrum of SCN2A-associated episodic ataxia af Niklas Schwarz, Thomas Bast, Eija Gaily, G. Golla, Kathleen M. Gorman, Lyn R. Griffiths, Andreas Hahn, Juliette Hukin, Marissa King, Christian Korff, María J. Miranda, Rikke S. Møller, Bernd A. Neubauer, Robert A. Smith, Thomas Smol, Pasquale Striano, B. Stroud, María Vaccarezza, Gerhard Kluger, Holger Lerche, Walid Fazeli

    Udgivet 2019
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  4. 4
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders af 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

    Udgivet 2017
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  5. 5
    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy af Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A. Ellis, Nadja Hümpfer, Niklas Schwarz, Simone Seiffert, Joseph Peeden, Joseph Shen, Katalin Štěrbová, Trine Bjørg Hammer, Rikke S. Møller, Deepali N. Shinde, Sha Tang, Lacey Smith, Annapurna Poduri, Roland Krause, Felix Benninger, Katherine L. Helbig, Volker Haucke, Yvonne G. Weber, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Vladimı́r Komárek, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Hiltrud Muhle, Deb K. Pal, Aarno Palotie, Felix Rosenow, Susanne Schubert‐Bast, Kaja Kristine Selmer, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Sarah Weckhuysen, Federico Zara, Paul Avillach, Anna Bartels, Sawona Biswas, Florence T. Bourgeois, Batsal Devkota, Tracy A. Glauser, Barbara Hallinan, Allison P. Heath, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Ian D. Krantz, In‐Hee Lee, Kenneth D. Mandl, Eric D. Marsh, Kristen L. Sund, Deanne Taylor, Peter S. White

    Udgivet 2019
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  6. 6
    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy af Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt‐Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynn M Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Luis F Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Saga Elise Eiset, Paul R. Mark, Mercelo R Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza LP Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rie szlig, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie A. Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan

    Udgivet 2019
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  7. 7
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias af Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Udgivet 2018
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  8. 8
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy af Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Saga Elise Eiset, Luis Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Paul R. Mark, Marcelo Rodrigues Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones

    Udgivet 2019
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