Auflistung Universitätsbibliographie nach Autor "Schubert, Julian"

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Auflistung Universitätsbibliographie nach Autor "Schubert, Julian"

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  • A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia
    Helbig, Katherine L.; Hedrich, Ulrike B. S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne-Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao-Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpaa, Leena; Karle, Kathrin N.; Synofzik, Matthis; Lehesjoki, Anna-Elina; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R.; Schöls, Ludger; Schüle-Freyer, Rebecca (2016)
  • Alterations in the alpha(2)delta ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
    Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasquale; Nicoletti, Ferdinando (2017)
  • Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
    Gardella, Elena; Becker, Felicitas; Moller, Rikke S.; Schubert, Julian; Lemke, Johannes R.; Larsen, Line H. G.; Eiberg, Hans; Nothnagel, Michael; Thiele, Holger; Altmueller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; Steinhoff, Bernhard; Nuernberg, Peter; Mang, Yuan; Moller, Louise Bakke; Gellert, Pia; Heron, Sarah E.; Dibbens, Leanne M.; Weckhuysen, Sarah; Dahl, Hans Atli; Biskup, Saskia; Tommerup, Niels; Hjalgrim, Helle; Lerche, Holger; Beniczky, Sandor; Weber, Yvonne G. (2016)
  • CHD2 variants are a risk factor for photosensitivity in epilepsy
    Galizia, Elizabeth C.; Myers, Candace T.; Leu, Costin; de Kovel, Carolien G. F.; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G.; Jacmin, Maxime; Drury, Suzanne; Chinthapalli, V. Krishna; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Moller, Rikke S.; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nuernberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Del Gaudio, Luigi; Boustred, Christopher; Schneider, Amy L.; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G.; Mullen, Saul A.; Berkovic, Samuel F.; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D.; Esguerra, Camila V.; Trenite, Dorothee G. A. Kasteleijn-Nolst; Koeleman, Bobby P. C.; Mefford, Heather C.; Scheffer, Ingrid E.; Sisodiya, Sanjay M. (2015)
  • Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
    Masnada, Silvia; Hedrich, Ulrike B. S.; Gardella, Elena; Schubert, Julian; Kaiwar, Charu; Klee, Eric W.; Lanpher, Brendan C.; Gavrilova, Ralitza H.; Synofzik, Matthis; Bast, Thomas; Gorman, Kathleen; King, Mary D.; Allen, Nicholas M.; Conroy, Judith; Ben Zeev, Bruria; Tzadok, Michal; Korff, Christian; Dubois, Fanny; Ramsey, Keri; Narayanan, Vinodh; Serratosa, Jose M.; Giraldez, Beatriz G.; Helbig, Ingo; Marsh, Eric; O'Brien, Margaret; Bergqvist, Christina A.; Binelli, Adrian; Porter, Brenda; Zaeyen, Eduardo; Horovitz, Dafne D.; Wolff, Markus; Marjanovic, Dragan; Caglayan, Hande S.; Arslan, Mutluay; Pena, Sergio D. J.; Sisodiya, Sanjay M.; Balestrini, Simona; Syrbe, Steffen; Veggiotti, Pierangelo; Lemke, Johannes R.; Moller, Rikke S.; Lerche, Holger; Rubboli, Guido (2017)
  • Clinical spectrum of STX1B-related epileptic disorders
    Wolking, Stefan; May, Patrick; Mei, Davide; Moller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stohr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.; Oates, Stephanie; Hughes, Elaine; Goyal, Sushma; Brown, Kathleen; Saenz, Margarita Sifuentes; Dorn, Thomas; Muhle, Hiltrud; Pagnamenta, Alistair T.; Vavoulis, Dimitris V.; Knight, Samantha J. L.; Taylor, Jenny C.; Canevini, Maria Paola; Darra, Francesca; Gavrilova, Ralitza H.; Powis, Zoe; Tang, Shan; Marquetand, Justus; Armstrong, Martin; McHale, Duncan; Klee, Eric W.; Kluger, Gerhard J.; Lowenstein, Daniel H.; Weckhuysen, Sarah; Pal, Deb K.; Helbig, Ingo; Guerrini, Renzo; Thomas, Rhys H.; Rees, Mark I.; Lesca, Gaetan; Sisodiya, Sanjay M.; Weber, Yvonne G.; Lal, Dennis; Marini, Carla; Lerche, Holger; Schubert, Julian (2019)
  • DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood
    Lal, Dennis; Reinthaler, Eva M.; Schubert, Julian; Muhle, Hiltrud; Riesch, Erik; Kluger, Gerhard; Jabbari, Kamel; Kawalia, Amit; Baeumel, Christine; Holthausen, Hans; Hahn, Andreas; Feucht, Martha; Neophytou, Birgit; Haberlandt, Edda; Becker, Felicitas; Altmueller, Janine; Thiele, Holger; Lemke, Johannes R.; Lerche, Holger; Nuernberg, Peter; Sander, Thomas; Weber, Yvonne; Zimprich, Fritz; Neubauer, Bernd A. (2014)
  • Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
    Becker, Felicitas; Schubert, Julian; Weckhuysen, Sarah; Suls, Arvid; Grueninger, Steffen; Korn-Merker, Elisabeth; Hofmann-Peters, Anne; Sperner, Juergen; Cross, Helen; Hallmann, Kerstin; Elger, Christian E.; Kunz, Wolfram S.; Madeleyen, Rene; Lerche, Holger; Weber, Yvonne G. (2015)
  • Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons
    Vardar, Gulcin; Gerth, Fabian; Schmitt, Xiao Jakob; Rautenstrauch, Pia; Trimbuch, Thorsten; Schubert, Julian; Lerche, Holger; Rosenmund, Christian; Freund, Christian (2020)
  • Gain-of-function HCN2 variants in genetic epilepsy
    Li, Melody; Maljevic, Snezana; Phillips, A. Marie; Petrovski, Slave; Hildebrand, Michael S.; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nuernberg, Peter; Wong, Michael; Weisenberg, Judith L.; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E.; Berkovic, Samuel F.; Petrou, Steven; Reid, Christopher A. (2018)
  • GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
    Striano, P.; Weber, Y. G.; Toliat, M. R.; Schubert, J.; Leu, C.; Chaimana, R.; Baulac, S.; Guerrero, R.; LeGuern, E.; Lehesjoki, A. -E.; Polvi, A.; Robbiano, A.; Serratosa, J. M.; Guerrini, R.; Nuernberg, P.; Sander, T.; Zara, F.; Lerche, H.; Marini, C. (2012)
  • Identification of genetic causes of inherited epilepsies and related syndromes
    Schubert, Julian (2014)
  • Investigation of GRIN2A in common epilepsy phenotypes
    Lal, Dennis; Steinbruecker, Sandra; Schubert, Julian; Sander, Thomas; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Krause, Roland; Lehesjoki, Anna-Elina; Nuernberg, Peter; Palotie, Aarno; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Becker, Albert J.; Schoch, Susanne; Hansen, Joerg; Dorn, Thomas; Hohl, Christin; Luescher, Nicole; von Spiczak, Sarah; Lemke, Johannes R. (2015)
  • Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
    Krueger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J.; Weber, Yvonne G.; Keo-Kosal, Pascale; Berkovic, Samuel F.; Hildebrand, Michael S.; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger (2022)
  • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
    Schubert, Julian; Siekierska, Aleksandra; Langlois, Melanie; May, Patrick; Huneau, Clement; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R.; de Kovel, Carolien G. F.; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R.; Sander, Thomas; Rueschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskes, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H.; Baulac, Stephanie; Moller, Rikke S.; Hjalgrim, Helle; Koeleman, Bobby P. C.; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C.; Glusman, Gustavo; Hood, Leroy; Galas, David J.; Martin, Benoit; de Witte, Peter A. M.; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nuernberg, Peter; Crawford, Alexander D.; Esguerra, Camila V.; Weber, Yvonne G.; Lerche, Holger (2014)
  • Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability
    Liu, Yuanyuan; Schubert, Julian; Sonnenberg, Lukas; Helbig, Katherine L.; Hoei-Hansen, Christina E.; Koko, Mahmoud; Rannap, Maert; Lauxmann, Stephan; Huq, Mahbubul; Schneider, Michael C.; Johannesen, Katrine M.; Kurlemann, Gerhard; Gardella, Elena; Becker, Felicitas; Weber, Yvonne G.; Benda, Jan; Moller, Rikke S.; Lerche, Holger (2019)
  • PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
    Schubert, Julian; Paravidino, Roberta; Becker, Felicitas; Berger, Andrea; Bebek, Nerses; Bianchi, Amedeo; Brockmann, Knut; Capovilla, Giuseppe; Bernardina, Bernardo Dalla; Fukuyama, Yukio; Hoffmann, Georg F.; Jurkat-Rott, Karin; Anttonen, Anna-Kaisa; Kurlemann, Gerhard; Lehesjoki, Anna-Elina; Lehmann-Horn, Frank; Mastrangelo, Massimo; Mause, Ulrike; Mueller, Stephan; Neubauer, Bernd; Puest, Burkhard; Rating, Dietz; Robbiano, Angela; Ruf, Susanne; Schroeder, Christopher; Seidel, Andreas; Specchio, Nicola; Stephani, Ulrich; Striano, Pasquale; Teichler, Jens; Turkdogan, Dilsad; Vigevano, Federico; Viri, Maurizio; Bauer, Peter; Zara, Federico; Lerche, Holger; Weber, Yvonne G. (2012)
  • PRRT2-related disorders: further PKD and ICCA cases and review of the literature
    Becker, Felicitas; Schubert, Julian; Striano, Pasquale; Anttonen, Anna-Kaisa; Liukkonen, Elina; Gaily, Eija; Gerloff, Christian; Mueller, Stephan; Heussinger, Nicole; Kellinghaus, Christoph; Robbiano, Angela; Polvi, Anne; Zittel, Simone; von Oertzen, Tim J.; Rostasy, Kevin; Schoels, Ludger; Warner, Tom; Muenchau, Alexander; Lehesjoki, Anna-Elina; Zara, Federico; Lerche, Holger; Weber, Yvonne G. (2013)
  • Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies : an exome-based case-control study
    May, Patrick; Girard, Simon; Harrer, Merle; Bobbili, Dheeraj R.; Schubert, Julian; Wolking, Stefan; Becker, Felicitas; Lachance-Touchette, Pamela; Meloche, Caroline; Gravel, Micheline; Niturad, Cristina E.; Knaus, Julia; De Kovel, Carolien; Toliat, Mohamad; Polvi, Anne; Iacomino, Michele; Guerrero-Lopez, Rosa; Baulac, Stephanie; Marini, Carla; Thiele, Holger; Altmueller, Janine; Jabbari, Kamel; Ruppert, Ann-Kathrin; Jurkowski, Wiktor; Lal, Dennis; Rusconi, Raffaella; Cestele, Sandrine; Terragni, Benedetta; Coombs, Ian D.; Reid, Christopher A.; Striano, Pasquale; Caglayan, Hande; Siren, Auli; Everett, Kate; Moller, Rikke S.; Hjalgrim, Helle; Muhle, Hiltrud; Helbig, Ingo; Kunz, Wolfram S.; Weber, Yvonne G.; Weckhuysen, Sarah; De Jonghe, Peter; Sisodiya, Sanjay M.; Nabbout, Rima; Franceschetti, Silvana; Coppola, Antonietta; Vari, Maria S.; Trenite, Dorothee Kasteleijn-Nolst; Baykan, Betul; Ozbek, Ugur; Bebek, Nerses; Klein, Karl M.; Rosenow, Felix; Nguyen, Dang K.; Dubeau, Francois; Carmant, Lionel; Lortie, Anne; Desbiens, Richard; Clement, Jean-Francois; Cieuta-Walti, Cecile; Sills, Graeme J.; Auce, Pauls; Francis, Ben; Johnson, Michael R.; Marson, Anthony G.; Berghuis, Bianca; Sander, Josemir W.; Avbersek, Andreja; McCormack, Mark; Cavalleri, Gianpiero L.; Delanty, Norman; Depondt, Chantal; Krenn, Martin; Zimprich, Fritz; Peter, Sarah; Nikanorova, Marina; Kraaij, Robert; van Rooij, Jeroen; Balling, Rudi; Ikram, M. Arfan; Uitterlinden, Andre G.; Avanzini, Giuliano; Schorge, Stephanie; Petrou, Steven; Mantegazza, Massimo; Sander, Thomas; LeGuern, Eric; Serratosa, Jose M.; Koeleman, Bobby P. C.; Palotie, Aarno; Lehesjoki, Anna-Elina; Nothnagel, Michael; Nuernberg, Peter; Maljevic, Snezana; Zara, Federico; Cossette, Patrick; Krause, Roland; Lerche, Holger (2018)
  • Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
    Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M.; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y.; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmuller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A.; Nuernberg, Peter; van Gassen, Koen L. I.; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther (2017)