![[höher]](/style/images/multi_up.png)
Eine Ebene höherGruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 5
Zeitschriftenartikel
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
Balestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D.; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G.; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Moller, Rikke S.; Riva, Antonella; Striano, Pasquale; Zara, Federico; Hemingway, Cheryl; Marini, Carla; Rosati, Anna; Mei, Davide; Montomoli, Martino; Guerrini, Renzo; Cross, J. Helen und Sisodiya, Sanjay M.
(2021):
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 92, Nr. 10: S. 1044-1052
Schulz, Herbert; Ruppert, Ann-Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; Vari, Maria S.; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Blanche, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Moller, Rikke S.; Oliver, Karen L.; Bellows, Susannah T.; Mullen, Saul A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Caglayan, Hande; Ozbek, Ugur; Hoffmann, Per; Schramm, Sara; Tsortouktzidis, Despina; Becker, Albert J. und Sander, Thomas
(2019):
No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy.
In: Epilepsia, Bd. 60, Nr. 5, E31-E36
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]
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