Browsing Universitätsbibliographie by Author "Lerche, Holger"

DSpace Repository

Browsing Universitätsbibliographie by Author "Lerche, Holger"

Sort by: Order: Results:

  • Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
    Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa (2020)
  • Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
    Buchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B. (2025)
  • Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
    Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valerie; Bhatia, Kailash P.; Bierhals, Tatjana; Bosselmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, Perrine; De Wachter, Matthias; Dehghani, Mohammadreza; D'haenens, Erika; Doco-Fenzy, Martine; Gessner, Michaela; Gobert, Cyrielle; Guliyeva, Ulviyya; Haack, Tobias B.; Hammer, Trine B.; Heinrich, Tilman; Hempel, Maja; Herget, Theresia; Hoffmann, Ute; Horvath, Judit; Houlden, Henry; Keren, Boris; Kresge, Christina; Kumps, Candy; Lederer, Damien; Lermine, Alban; Magrinelli, Francesca; Maroofian, Reza; Mehrjardi, Mohammad Yahya Vahidi; Moudi, Mahdiyeh; Mueller, Amelie J.; Oostra, Anna J.; Pletcher, Beth A.; Ros-Pardo, David; Samarasekera, Shanika; Tartaglia, Marco; Van Schil, Kristof; Vogt, Julie; Wassmer, Evangeline; Winkelmann, Juliane; Zaki, Maha S.; Zech, Michael; Lerche, Holger; Radio, Francesca Clementina; Gomez-Puertas, Paulino; Moller, Rikke S.; Tuemer, Zeynep (2022)
  • Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
    Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter (2019)
  • Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
    Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Duhring; Schorge, Stephanie; Baez-Nieto, David; Wang, Hao-Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; Sheidley, Beth R.; Craiu, Dana; Olson, Heather E.; Weckhuysen, Sarah; DeJonge, Peter; Helbig, Ingo; Van Esch, Hilde; Busa, Tiffany; Milh, Matthieu; Isidor, Bertrand; Depienne, Christel; Poduri, Annapurna; Campbell, Arthur J.; Dimidschstein, Jordane; Moller, Rikke S.; Lal, Dennis (2020)
  • Brivaracetam substituting other antiepileptic treatments: Results of a retrospective study in German epilepsy centers
    Lerche, Holger; Knake, Susanne; Rosenow, Felix; Schulze-Bonhage, Andreas; Hellot, Scarlett; Leunikava, Iryna; Schulz, Anne-Liv; Hopp, Peter (2020)
  • Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
    Lal, Dennis; Ruppert, Ann-Kathrin; Trucks, Holger; Schulz, Herbert; de Kovel, Carolien G.; Trenite, Dorothee Kasteleijn-Nolst; Sonsma, Anja C. M.; Koeleman, Bobby P.; Lindhout, Dick; Weber, Yvonne G.; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Surges, Rainer; Elger, Christian E.; Gaus, Verena; Schmitz, Bettina; Helbig, Ingo; Muhle, Hiltrud; Stephani, Ulrich; Klein, Karl M.; Rosenow, Felix; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Moller, Rikke S.; Hjalgrim, Helle; De Jonghe, Peter; Suls, Arvid; Lieb, Wolfgang; Franke, Andre; Strauch, Konstantin; Gieger, Christian; Schurmann, Claudia; Schminke, Ulf; Nuernberg, Peter; Sander, Thomas (2015)
  • Characterization of the GABRB2-Associated Neurodevelopmental Disorders
    el Achkar, Christelle M.; Harrer, Merle; Smith, Lacey; Kelly, McKenna; Iqbal, Sumaiya; Maljevic, Snezana; Niturad, Cristina E.; Vissers, Lisenka E. L. M.; Poduri, Annapurna; Yang, Edward; Lal, Dennis; Lerche, Holger; Moller, Rikke S.; Olson, Heather E. (2021)
  • 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)
  • Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis
    Foeller, Michael; Hermann, Andreas; Gu, Shuchen; Alesutan, Ioana; Qadri, Syed M.; Borst, Oliver; Schmidt, Eva-Maria; Schiele, Franziska; vom Hagen, Jennifer Mueller; Saft, Carsten; Schoels, Ludger; Lerche, Holger; Stournaras, Christos; Storch, Alexander; Lang, Florian (2012)
  • Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
    Lyu, Hang; Bosselmann, Christian M.; Johannesen, Katrine M.; Koko, Mahmoud; Ortigoza-Escobar, Juan Dario; Aguilera-Albesa, Sergio; Nunez, Deyanira Garcia -Navas; Linnankivi, Tarja; Gaily, Eija; Ruiten, Henriette J. A. van; Richardson, Ruth; Betzler, Cornelia; Horvath, Gabriella; Brilstra, Eva; Geerdink, Niels; Orsucci, Daniele; Tessa, Alessandra; Gardella, Elena; Fleszar, Zofia; Schoels, Ludger; Lerche, Holger; Moller, Rikke S.; Liu, Yuanyuan (2023)
  • 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)
  • 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)
  • Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings
    Stier, Christina; Loose, Markus; Kotikalapudi, Raviteja; Elshahabi, Adham; Li Hegner, Yiwen; Marquetand, Justus; Braun, Christoph; Lerche, Holger; Focke, Niels K. (2022)
  • Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
    Androsova, Ganna; Krause, Roland; Borghei, Mojgansadat; Wassenaar, Merel; Auce, Pauls; Avbersek, Andreja; Becker, Felicitas; Berghuis, Bianca; Campbell, Ellen; Coppola, Antonietta; Francis, Ben; Wolking, Stefan; Cavalleri, Gianpiero L.; Craig, John; Delanty, Norman; Koeleman, Bobby P. C.; Kunz, Wolfram S.; Lerche, Holger; Marson, Anthony G.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Sisodiya, Sanjay M.; Depondt, Chantal (2017)
  • Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy
    Quinn, Shir; Zhang, Nan; Fenton, Timothy A.; Brusel, Marina; Muruganandam, Preethi; Peleg, Yoav; Giladi, Moshe; Haitin, Yoni; Lerche, Holger; Bassan, Haim; Liu, Yuanyuan; Ben-Shalom, Roy; Rubinstein, Moran (2024)
  • Connectome-based disentangling of epilepsy networks from insular stereoelectroencephalographic leads
    Machetanz, Kathrin; Weinbrenner, Eliane; Wuttke, Thomas Volkmar; Ethofer, Silke; Helfrich, Randolph; Kegele, Josua; Lauxmann, Stephan; Alber, Michael; Rona, Sabine; Tatagiba, Marcos; Lerche, Holger; Honegger, Juergen; Naros, Georgios (2025)
  • Current practice in diagnostic genetic testing of the epilepsies
    Krey, Ilona; Platzer, Konrad; Esterhuizen, Alina; Berkovic, Samuel F.; Helbig, Ingo; Hildebrand, Michael S.; Lerche, Holger; Lowenstein, Daniel; Moller, Rikke S.; Poduri, Annapurna; Sadleir, Lynette; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Wilmshurst, Jo M.; Weber, Yvonne; Lemke, Johannes R. (2022)
  • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
    Syrbe, Steffen; Hedrich, Ulrike B. S.; Riesch, Erik; Djemie, Tania; Mueller, Stephan; Moller, Rikke S.; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S.; Arslan, Mutluay; Serratosa, Jose M.; Nothnagel, Michael; May, Patrick; Krause, Roland; Loeffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Kraemer, Guenter; Schoels, Ludger; Mullis, Primus E.; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Sterbova, Katalin; Craiu, Dana C.; Hoffman-Zacharska, Dorota; Korff, Christian M.; Weber, Yvonne G.; Steinlin, Maja; Gallati, Sabina; Bertsche, Astrid; Bernhard, Matthias K.; Merkenschlager, Andreas; Kiess, Wieland; Gonzalez, Michael; Zuechner, Stephan; Palotie, Aarno; Suls, Arvid; De Jonghe, Peter; Helbig, Ingo; Biskup, Saskia; Wolff, Markus; Maljevic, Snezana; Schule, Rebecca; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Lerche, Holger; Lemke, Johannes R. (2015)