Logo Logo
Group by: Item Type | Date
Number of items: 13.

Journal article

Stuelpnagel, Celina von; Baalen, Andreas van; Borggraefe, Ingo; Eschermann, Kirsten; Hartlieb, Till; Kiwull, Lorenz; Pringsheim, Milka; Wolff, Markus; Kudernatsch, Manfred; Wiegand, Gert; Striano, Pasquale and Kluger, Gerhard (14. January 2021): Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years. In: Frontiers in Neurology, Vol. 11, 622510 [PDF, 563kB]

Hofmeister, Benedikt; Stuelpnagel, Celina von; Betzler, Cornelia; Mari, Francesca; Renieri, Alessandra; Baldassarri, Margherita; Haberlandt, Edda; Jansen, Katrien; Schilling, Stefan; Weber, Peter; Ahlbory, Katja; Tang, Shan; Berweck, Steffen and Kluger, Gerhard (2021): Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects. In: Neuropediatrics, Vol. 52, No. 2: pp. 109-122

Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; Spaendonk, Rosalina M. L. van; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; Grauw, Ton de; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; Warrenburg, Bart P. van de; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I.; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; Knaap, Marjo S. van der; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole I. and Bernard, Genevieve (2021): Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. In: Journal of Clinical Endocrinology & Metabolism, Vol. 106, No. 2, E660-E674

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 and 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, Vol. 14, No. 6: pp. 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 and 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, Vol. 35, No. 10: pp. 1107-1122

Hofmeister, Benedikt; Stülpnagel, Celina von; Berweck, Steffen; Abicht, Angela; Kluger, Gerhard and Weber, Peter (2020): Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome ( SMARCA2 Mutation)-Due to a POLG1 -Related Effect? In: Neuropediatrics, Vol. 51, No. 1: pp. 49-52

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 and Syrbe, Steffen (2020): The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. In: Biomedicines, Vol. 8, No. 11, 456

Kluger, Gerhard; Stuelpnagel-Steinbeis, Celina von; Arnold, Stephan; Eschermann, Kirsten and Hartlieb, Till (2019): Positive Short-Term Effect of Low-Dose Rosuvastatin in a Patient with SYNGAP1 -Associated Epilepsy. In: Neuropediatrics, Vol. 50, No. 4: pp. 266-267

Stuelpnagel, Celina von; Hartlieb, Till; Borggraefe, Ingo; Coppola, Antonietta; Gennaro, Elena; Eschermann, Kirsten; Kiwull, Lorenz; Kluger, Felicitas; Krois, Ilona; Moller, Rikke S.; Rossler, Franziska; Santulli, Lia; Schwermer, Constanze; Wallacher-Scholz, Barbara; Zara, Federico; Wolf, Peter and Kluger, Gerhard (2019): Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases. In: Seizure-European Journal of Epilepsy, Vol. 65: pp. 131-137

Tacke, Moritz; Borggraefe, Ingo; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Bast, Thomas; Neubauer, Bernd Axel; Baumeister, Friedrich; Baethmann, Martina; Bentele, Karl; Blank, Christian; Blank, Harald M.; Bode, Harald; Bosch, Friedrich; Brandl, Ulrich; Brockmann, Knut; Dahlem, Peter; Ernst, Jan-Peter; Feldmann, Evemarie; Fiedler, Andreas; Gerigk, Michael; Hess, Sören; Hikel, Christiane; Hoffmann, Hans -Georg; Kieslich, Matthias; Klepper, Jörg; Kluger, Gerhard; Koch, Hartmut; Koch, Walter; Korinthenberg, Rudolf; Krois, Ilona; Kuehne, Hermann; Kurlemann, Gerhard; Mandl, Michaela; Mause, Ulrike; Navratil, Peter; Opp, Joachim; Penzien, Johann; Prietsch, Viola; Quattlaender, Axel; Rating, Dietz; Schara, Ulrike; Shamdeen, Mohammed G.; Sprinz, Andreas; Wendker-Magrabi, Hildegard; Stephani, Ulrich; Muhle, Hiltrud; Strassburg, Hans-Michael; Toepke, Baerbel; Trollmann, Regina; Tuschen-Hofstaetter, Elisabeth; Waltz, Stephan; Weber, Gabriele; Wien, Frank U.; Wolff', Markus; Polster, Tilman; Freitag, Hedwig; Soenmez, Otzcam; Reinhardt, Klaus; Traus, Marion and Hoovey, Zeecam (2018): Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. In: Seizure-European Journal of Epilepsy, Vol. 56: pp. 115-120

Wieländer, Franziska; Sarviaho, Riika; James, Fiona; Hytoenen, Marjo; Cortez, Miguel; Kluger, Gerhard; Koskinen, Lotta; Arumilli, Meharji; Kornberg, Marion; Bathen-Nöthen, Andrea; Tipold, Andrea; Rentmeister, Kai; Bhatti, Sofie; Hülsmeyer, Velia; Böttcher, Irene C.; Tästensen, Carina; Flegel, Thomas; Dietschi, Elisabeth; Leeb, Tosso; Matiasek, Kaspar; Fischer, Andrea and Lohi, Hannes (2017): Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 114, No. 10: pp. 2669-2674

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 and Maljevic, Snezana (2017): Mutations in GABRB3. From febrile seizures to epileptic encephalopathies. In: Neurology, Vol. 88, No. 5: pp. 483-492 [PDF, 805kB]

Mignot, Cyril; Stülpnagel, Celina von; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggräfe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hörtnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Héron, Delphine; Kluger, Gerhard and Depienne, Christel (2016): Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: Journal of Medical Genetics, Vol. 53, No. 8: pp. 511-522 [PDF, 1MB]

This list was generated on Sun Apr 14 04:31:21 2024 CEST.