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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 8
2022
Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; Zwaag, Bert van der; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc, Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger und Moller, Rikke S.
(2022):
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
In: Brain, Bd. 145, Nr. 9: S. 2991-3009
Popp, Bernt; Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Sorge, Ina; Lemke, Johannes R.; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent und Brunet, Theresa
(2022):
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
In: Clinical Genetics, Bd. 103, Nr. 2: S. 226-230
2020
Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; Boogaard, Marie-Jose van den; Crabben, Saskia N. van der; Gassen, Koen L. I. van; Jaarsveld, Richard H. van; Ziffle, Jessica van; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R. und Platzer, Konrad
(2020):
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
In: Genetics in Medicine, Bd. 23, Nr. 4: S. 653-660
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
2017
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
[PDF, 805kB]
2016
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 und Depienne, Christel
(2016):
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
In: Journal of Medical Genetics, Bd. 53, Nr. 8: S. 511-522
[PDF, 1MB]
Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Møller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Søndergård, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H. G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klein, Karl M.; Reif, Philipp S.; Rosenow, Felix; Elias, Abdallah F.; Hudson, Cindy; Helbig, Katherine L.; Schubert-Bast, Susanne; Scordo, Maria R.; Craiu, Dana; Djémié, Tania; Hoffman-Zacharska, Dorota; Caglayan, Hande; Helbig, Ingo; Serratosa, Jose; Striano, Pasquale; Jonghe, Peter de; Weckhuysen, Sarah; Suls, Arvid; Muru, Kai; Talvik, Inga; Talvik, Tiina; Muhle, Hiltrud; Borggraefe, Ingo; Rost, Imma; Guerrini, Renzo; Lerche, Holger; Lemke, Johannes R.; Rubboli, Guido und Maljevic, Snezana
(2016):
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
In: Neurology, Bd. 87, Nr. 11: S. 1140-1151