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Anzahl der Publikationen: 6
Zeitschriftenartikel
Liao, Calwing; Castonguay, Charles-Etienne; Heilbron, Karl; Vuokila, Veikko; Medeiros, Miranda; Houle, Gabrielle; Akcimen, Fulya; Ross, Jay P.; Catoire, Helene; Diez-Fairen, Monica; Kang, Jooeun; Mueller, Stefanie H.; Girard, Simon L.; Hopfner, Franziska; Lorenz, Delia; Clark, Lorraine N.; Soto-Beasley, Alexandra I.; Klebe, Stephan; Hallett, Mark; Wszolek, Zbigniew K.; Pendziwiat, Manuela; Lorenzo-Betancor, Oswaldo; Seppi, Klaus; Berg, Daniela; Vilarino-Guell, Carles; Postuma, Ronald B.; Bernard, Genevieve; Dupre, Nicolas; Jankovic, Joseph; Testa, Claudia M.; Ross, Owen A.; Arzberger, Thomas; Chouinard, Sylvain; Louis, Elan D.; Mandich, Paola; Vitale, Carmine; Barone, Paolo; Garcia-Martin, Elena; Alonso-Navarro, Hortensia; Agundez, Jose A. G.; Jimenez-Jimenez, Felix Javier; Pastor, Pau; Rajput, Alex; Deuschl, Gunther; Kuhlenbaumer, Gregor; Meijer, Inge A.; Dion, Patrick A. und Rouleau, Guy A.
(2022):
Association of Essential Tremor With Novel Risk Loci A Genome-Wide Association Study and Meta-analysis.
In: JAMA Neurology, Bd. 79, Nr. 2: S. 185-193
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
Hopfner, Franziska; Tietz, Anja K.; Ruf, Viktoria C.; Ross, Owen A.; Koga, Shunsuke; Dickson, Dennis; Aguzzi, Adriano; Attems, Johannes; Beach, Thomas; Beller, Allison; Cheshire, William P.; Deerlin, Vivianna van; Desplats, Paula; Deuschl, Guenther; Duyckaerts, Charles; Ellinghaus, David; Evsyukov, Valentin; Flanagan, Margaret Ellen; Franke, Andre; Frosch, Matthew P.; Gearing, Marla; Gelpi, Ellen; Gerpen, Jay A. van; Ghetti, Bernardino; Glass, Jonathan D.; Grinberg, Lea T.; Halliday, Glenda; Helbig, Ingo; Hollerhage, Matthias; Huitinga, Inge; Irwin, David John; Keene, Dirk C.; Kovacs, Gabor G.; Lee, Edward B.; Levin, Johannes; Marti, Maria J.; Mackenzie, Ian; McKeith, Ian; Mclean, Catriona; Mollenhauer, Brit; Neumann, Manuela; Newell, Kathy L.; Pantelyat, Alex; Pendziwiat, Manuela; Peters, Annette; Porcel, Laura Molina; Rabano, Alberto; Matej, Radoslav; Rajput, Alex; Rajput, Ali; Reimann, Regina; Scott, William K.; Seeley, William; Selvackadunco, Sashika; Simuni, Tanya; Stadelmann, Christine; Svenningsson, Per; Thomas, Alan; Trenkwalder, Claudia; Troakes, Claire; Trojanowski, John Q.; Uitti, Ryan J.; White, Charles L.; Wszolek, Zbigniew K.; Xie, Tao; Ximelis, Teresa; Yebenes, Justo; Mueller, Ulrich; Schellenberg, Gerard D.; Herms, Jochen; Kuhlenbaumer, Gregor und Hoeglinger, Gunter
(2022):
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.
In: Movement Disorders, Bd. 37, Nr. 10: S. 2110-2121
[PDF, 2MB]
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]
Müller, Stefanie H.; Girard, Simon L.; Hopfner, Franziska; Merner, Nancy D.; Bourassa, Cynthia V.; Lorenz, Delia; Clark, Lorraine N.; Tittmann, Lukas; Soto-Ortolaza, Alexandra I.; Klebe, Stephan; Hallett, Mark; Schneider, Susanne A.; Hodgkinson, Colin A.; Lieb, Wolfgang; Wszolek, Zbigniew K.; Pendziwiat, Manuela; Lorenzo-Betancor, Oswaldo; Poewe, Werner; Ortega-Cubero, Sara; Seppi, Klaus; Rajput, Alex; Hussl, Anna; Rajput, Ali H.; Berg, Daniela; Dion, Patrick A.; Wurster, Isabel; Shulman, Joshua M.; Srulijes, Karin; Haubenberger, Dietrich; Pastor, Pau; Vilariño-Güell, Carles; Postuma, Ronald B.; Bernard, Geneviève; Ladwig, Karl-Heinz; Dupré, Nicolas; Jankovic, Joseph; Strauch, Konstantin; Panisset, Michel; Winkelmann, Juliane; Testa, Claudia M.; Zeuner, Kirsten E.; Reischl, Eva; Ross, Owen A.; Arzberger, Thomas; Chouinard, Sylvain; Deuschl, Günther; Louis, Elan D.; Kuhlenbäumer, Gregor und Rouleau, Guy A.
(2016):
Genome-wide association study in essential tremor identifies three new loci.
In: Brain, Bd. 139: S. 3163-3169