Auflistung Universitätsbibliographie nach Autor "Schwarz, Niklas"

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Auflistung Universitätsbibliographie nach Autor "Schwarz, Niklas"

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  • 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy
    Hedrich, Ulrike B. S.; Lauxmann, Stephan; Wolff, Markus; Synofzik, Matthis; Bast, Thomas; Binelli, Adrian; Serratosa, Jose M.; Martinez-Ulloa, Pedro; Allen, Nicholas M.; King, Mary D.; Gorman, Kathleen M.; Ben Zeev, Bruria; Tzadok, Michal; Wong-Kisiel, Lily; Marjanovic, Dragan; Rubboli, Guido; Sisodiya, Sanjay M.; Lutz, Florian; Ashraf, Harshad Pannikkaveettil; Torge, Kirsten; Yan, Pu; Bosselmann, Christian; Schwarz, Niklas; Fudali, Monika; Lerche, Holger (2021)
  • A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
    Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter (2019)
  • Clinical and genetic spectrum of SCN2A-associated episodic ataxia
    Schwarz, N.; Bast, T.; Gaily, E.; Golla, G.; Gorman, K. M.; Griffiths, L. R.; Hahn, A.; Hukin, J.; King, M.; Korff, C.; Miranda, M. J.; Moller, R. S.; Neubauer, B.; Smith, R. A.; Smol, T.; Striano, P.; Stroud, B.; Vaccarezza, M.; Kluger, G.; Lerche, H.; Fazeli, W. (2019)
  • De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
    Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C. (2018)
  • Epilepsie und episodische Ataxie durch zwei synergistische Natriumkanalmutationen
    Schwarz, Niklas (2016)
  • Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation
    Schwarz, Niklas; Uysal, Betuel; Rosa, Filip; Loeffler, Heidi; Mau-Holzmann, Ulrike A.; Liebau, Stefan; Lerche, Holger (2019)
  • Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS plus carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p. Leu46Met) mutation
    Haag, Carolin; Uysal, Betuel; Marquetand, Justus; Loeffler, Heidi; Mau-Holzmann, Ulrike A.; Lerche, Holger; Schwarz, Niklas (2023)
  • Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
    Wolff, Markus; Johannesen, Katrine M.; Hedrich, Ulrike B. S.; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothee; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gerard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stephane; Miranda, Maria J.; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; van Kempen, Marjan; Braun, Kees P.; Mancini, Grazia; Biskup, Saskia; Hoertnagel, Konstanze; Doecker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M.; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G.; Arndt, Daniel H.; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Wical, Beverly; Finetti, Claudio; Brueckner, Reinhard; Pietz, Joachim; Golla, Guenther; Jillella, Dinesh; Linnet, Karen M.; Charles, Perrine; Moog, Ute; Oiglane-Shlik, Eve; Mantovani, John F.; Park, Kristen; Deprez, Marie; Lederer, Damien; Mary, Sandrine; Scalais, Emmanuel; Selim, Laila; Van Coster, Rudy; Lagae, Lieven; Nikanorova, Marina; Hjalgrim, Helle; Korenke, G. Christoph; Trivisano, Marina; Specchio, Nicola; Ceulemans, Berten; Dorn, Thomas; Helbig, Katherine L.; Hardies, Katia; Stamberger, Hannah; de Jonghe, Peter; Weckhuysen, Sarah; Lemke, Johannes R.; Kraegeloh-Mann, Ingeborg; Helbig, Ingo; Kluger, Gerhard; Lerche, Holger; Moller, Rikke S. (2017)
  • Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
    O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Victor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Curro, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christele; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B.; Hashim, Mona; Heide, Solveig; Helbig, Katherine L.; Helbig, Ingo; Heredia, Raul; Heron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y.; Lavillaureix, Alinoe; Lu, Xin; Maas, Saskia M.; Maegawa, Gustavo H. B.; Marcelis, Carlo L. M.; Mark, Paul R.; Masruha, Marcelo R.; McLaughlin, Heather M.; McWalter, Kirsty; Melchinger, Esther U.; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L. P.; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Riess, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C.; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A.; van der Linden, Helio, Jr.; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G.; Wentzensen, Ingrid M.; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H.; Mcrae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel (2019)
  • Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices
    Wickham, Jenny; Corna, Andrea; Schwarz, Niklas; Uysal, Betuel; Layer, Nikolas; Honegger, Juergen B.; Wuttke, Thomas, V; Koch, Henner; Zeck, Guenther (2020)
  • Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures
    Schwarz, Niklas; Hedrich, Ulrike B. S.; Schwarz, Hannah; Harshad, P. A.; Dammeier, Nele; Auffenberg, Eva; Bedogni, Francesco; Honegger, Juergen B.; Lerche, Holger; Wuttke, Thomas V.; Koch, Henner (2017)
  • In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment
    Rosa, Filip; Dhingra, Ashutosh; Uysal, Betuel; Mendis, G. Dulini C.; Loeffler, Heidi; Elsen, Gina; Mueller, Stephan; Schwarz, Niklas; Castillo-Lizardo, Melissa; Cuddy, Claire; Becker, Felicitas; Heutink, Peter; Reid, Christopher A.; Petrou, Steven; Lerche, Holger; Maljevic, Snezana (2020)
  • Irradiation enhances the therapeutic effect of the oncolytic adenovirus XVir-N-31 in brain tumor initiating cells
    Czolk, Rebecca; Schwarz, Niklas; Koch, Henner; Schoetterl, Sonja; Wuttke, Thomas V.; Holm, Per S.; Huber, Stephan M.; Naumann, Ulrike (2019)
  • KCNC2 variants of uncertain significance are also associated to various forms of epilepsy
    Seiffert, Simone; Pendziwiat, Manuela; Hedrich, Ulrike B. S.; Helbig, Ingo; Weber, Yvonne; Schwarz, Niklas (2023)
  • Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease
    Schwarz, Niklas; Uysal, Betuel; Welzer, Marc; Bahr, Jacqueline C.; Layer, Nikolas; Loeffler, Heidi; Stanaitis, Kornelijus; Harshad, P. A.; Weber, Yvonne G.; Hedrich, Ulrike B. S.; Honegger, Juergen B.; Skodras, Angelos; Becker, Albert J.; Wuttke, Thomas, V; Koch, Henner (2019)
  • Microglial inclusions and neurofilament light chain release follow neuronal alpha-synuclein lesions in long-term brain slice cultures
    Barth, Melanie; Bacioglu, Mehtap; Schwarz, Niklas; Novotny, Renata; Brandes, Janine; Welzer, Marc; Mazzitelli, Sonia; Haesler, Lisa M.; Schweighauser, Manuel; Wuttke, Thomas, V; Kronenberg-Versteeg, Deborah; Fog, Karina; Ambjorn, Malene; Alik, Ania; Melki, Ronald; Kahle, Philipp J.; Shimshek, Derya R.; Koch, Henner; Jucker, Mathias; Tanrioever, Gaye (2021)
  • Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
    Seiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Bosselmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, Yvonne (2022)
  • Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
    Schwarz, N.; Hahn, A.; Bast, T.; Mueller, S.; Loeffler, H.; Maljevic, S.; Gaily, E.; Prehl, I.; Biskup, S.; Joensuu, T.; Lehesjoki, A. -E.; Neubauer, B. A.; Lerche, H.; Hedrich, U. B. S. (2016)
  • Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
    Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brunger, Tobias; Hedrich, Ulrike B. S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S.; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S.; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S.; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A.; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M.; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne (2022)
  • Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature
    Lauxmann, Stephan; Sonnenberg, Lukas; Koch, Nils A.; Bosselmann, Christian; Winter, Natalie; Schwarz, Niklas; Wuttke, Thomas, V; Hedrich, Ulrike B. S.; Liu, Yuanyuan; Lerche, Holger; Benda, Jan; Kegele, Josua (2021)