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Anzahl der Publikationen: 11
Zeitschriftenartikel
Bolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger und Wortmann, Saskia B.
(2022):
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
In: Nutrients, Bd. 14, Nr. 17, 3605
Strzelczyk, Adam; Grau, Janina; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Kurlemann, Gerhard; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; Podewils, Felix von; Rosenow, Felix; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Schubert-Bast, Susanne; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca und Zoellner, Johann Philipp
(2021):
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.
In: Expert Review of Clinical Pharmacology, Bd. 14, Nr. 6: S. 749-760
Willems, Laurent M.; Rosenow, Felix; Schubert-Bast, Susanne; Kurlemann, Gerhard; Zoellner, Johann Philipp; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Ebrahimi-Fakhari, Daniel; Grau, Janina; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klein, Karl Martin; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; Podewils, Felix von; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca und Strzelczyk, Adam
(2021):
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.
In: Cns Drugs, Bd. 35, Nr. 10: S. 1107-1122
Klotz, Kerstin Alexandra; Schoenberger, Jan; Nakamura, Lea; San Antonio-Arce, Victoria; Bast, Thomas; Wiemer-Kruel, Adelheid; Schubert-Bast, Susanne; Borggraefe, Ingo; Syrbe, Steffen und Jacobs, Julia
(2020):
Expectations and knowledge of cannabidiol therapy for childhood epilepsy - A German caregiver survey.
In: Epilepsy & Behavior, Bd. 111, 107268
Jarius, Sven; Lechner, Christian; Wendel, Eva M.; Baumann, Matthias; Breu, Markus; Schimmel, Mareike; Karenfort, Michael; Marina, Adela Della; Merkenschlager, Andreas; Thiels, Charlotte; Blaschek, Astrid; Salandin, Michela; Leiz, Steffen; Leypoldt, Frank; Pschibul, Alexander; Hackenberg, Annette; Hahn, Andreas; Syrbe, Steffen; Strautmanis, Jurgis; Haeusler, Martin; Krieg, Peter; Eisenkoelbl, Astrid; Stoffels, Johannes; Eckenweiler, Matthias; Ayzenberg, Ilya; Haas, Jürgen; Hoeftberger, Romana; Kleiter, Ingo; Korporal-Kuhnke, Mirjam; Ringelstein, Marius; Ruprecht, Klemens; Siebert, Nadja; Schanda, Kathrin; Aktas, Orhan; Paul, Friedemann; Reindl, Markus; Wildemann, Brigitte und Rostasy, Kevin
(2020):
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
In: Journal of Neuroinflammation, Bd. 17, Nr. 1, 262
Syrbe, Steffen; Stettner, Georg M.; Bally, Julien; Borggraefe, Ingo; Bien, Corinna I.; Ferfoglia, Ruxandra Iancu; Huppke, Peter; Kern, Jan; Polster, Tilman; Probst-Müller, Elisabeth; Schmid, Silvia; Steinfeld, Robert; Strozzi, Susi; Weichselbaum, Annette; Weitz, Marcus; Ziegler, Andreas; Wandinger, Klaus-Peter; Leypoldt, Frank und Bien, Christian G.
(2020):
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.
In: Neurology, Bd. 94, Nr. 22, E2290-E2301
Doering, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggraefe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjorg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kuehne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; Stülpnagel, Celina von; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Koelker, Stefan und Syrbe, Steffen
(2020):
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
In: Biomedicines, Bd. 8, Nr. 11, 456
Saffari, Afshin; Broesse, Ines; Wiemer-Kruel, Adelheid; Wilken, Bernd; Kreuzaler, Paula; Hahn, Andreas; Bernhard, Matthias K.; van Tilburg, Cornelis M.; Hoffmann, Georg F.; Gorenflo, Matthias; Hethey, Sven; Kaiser, Olaf; Koelker, Stefan; Wagner, Robert; Witt, Olaf; Merkenschlager, Andreas; Moeckel, Andreas; Roser, Timo; Schlump, Jan-Ulrich; Serfling, Antje; Spiegler, Juliane; Milde, Till; Ziegler, Andreas und Syrbe, Steffen
(2019):
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
In: Orphanet Journal of Rare Diseases, Bd. 14, UNSP 96
Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne und Haack, Tobias B.
(2018):
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
In: American Journal of Human Genetics, Bd. 103, Nr. 5: S. 817-825
Kovel, Carolien G. F. de; Syrbe, Steffen; Brilstra, Eva H.; Verbeek, Nienke; Kerr, Bronwyn; Dubbs, Holly; Bayat, Allan; Desai, Sonal; Naidu, Sakkubai; Srivastava, Siddharth; Cagaylan, Hande; Yis, Uluc; Saunders, Carol; Rook, Martin; Plugge, Susanna; Muhle, Hiltrud; Afawi, Zaid; Klein, Karl-Martin; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Goldberg, Ethan; Marsh, Eric; Kessler, Sudha; Bergqvist, Christina; Conlin, Laura K.; Krok, Bryan L.; Thiffault, Isabelle; Pendziwiat, Manuela; Helbig, Ingo; Polster, Tilman; Borggraefe, Ingo; Lemke, Johannes R.; Boogaardt, Marie-Jose van den; Moller, Rikke S. und Koeleman, Bobby P. C.
(2017):
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
In: Jama Neurology, Bd. 74, Nr. 10: S. 1228-1236
Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; Bellescize, Julitta de; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nils; Jacobs, Julia; Swinkels, Marielle; Betzler, Cornelia; Syrbe, Steffen; Nikanorova, Marina; Myers, Candace T.; Larsen, Line H. G.; Vejzovic, Sabina; Pendziwiat, Manuela; Spiczak, Sarah von; Hopkins, Sarah; Dubbs, Holly; Mang, Yuan; Mukhin, Konstantin; Holthausen, Hans; Gassen, Koen L. van; Dahl, Hans A.; Tommerup, Niels; Mefford, Heather C.; Rubboli, Guido; Guerrini, Renzo; Lemke, Johannes R.; Lerche, Holger; Muhle, Hiltrud und Maljevic, Snezana
(2017):
Mutations in GABRB3. From febrile seizures to epileptic encephalopathies.
In: Neurology, Bd. 88, Nr. 5: S. 483-492
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