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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 13
2022
Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin, Chao; Hull, Brooke; Pei-Tseng, Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu, Huang; Longley, Colleen M.; Hsiao-Tua0n, Chao; Hyung-lok, Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; Dooren, Marieke F. van; Wilke, MartinaSlegtenhorst; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F. und Yamamoto, Shinya
(2022):
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
In: Cell Reports, Bd. 38, Nr. 11, 110517
Vogel, Florian D.; Krenn, Martin; Westphal, Dominik S.; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Auge-Stock, Maximilian; Kramer, Georg; Scholze, Petra und Ernst, Margot
(2022):
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
In: Epilepsia, Bd. 63, Nr. 4, E35-E41
Wendel, Eva Maria; Thonke, Helen Sophie; Bertolini, Annikki; Baumann, Matthias; Blaschek, Astrid; Merkenschlager, Andreas; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Pohl, Daniela; Pritsch, Martin; Schanda, Kathrin; Schimmel, Mareike; Thiels, Charlotte; Waltz, Stephan; Wiegand, Gert; Anlar, Banu; Barisic, Nina; Blank, Christian; Breu, Markus; Broser, Philip; Della Marina, Adela; Diepold, Katharina; Eckenweiler, Matthias; Eisenkoelbl, Astrid; Freilinger, Michael; Gruber-Sedlmayr, Ursula; Hackenberg, Annette; Iff, Tobias; Knierim, Ellen; Koch, Johannes; Kutschke, Georg; Leiz, Steffen; Lischetzki, Grischa; Nosadini, Margherita; Pschibul, Alexander; Reiter-Fink, Edith; Rohrbach, Doris; Salandin, Michela; Sartori, Stefano; Schlump, Jan-Ulrich; Stoffels, Johannes; Strautmanis, Jurgis; Tibussek, Daniel; Tuengler, Victoria; Utzig, Norbert; Reindl, Markus und Rostasy, Kevin
(2022):
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
In: Neurology: Neuroimmunology & Neuroinflammation, Bd. 9, Nr. 6, e200035
2021
Rakete, Stefan 
ORCID: https://orcid.org/0000-0002-4851-513X; Asenbauer, Elisabeth; Böhm, Susann; Leiz, Steffen; Peters, Jochen; Nowak, Dennis ORCID: https://orcid.org/0000-0001-7871-8686 und Böse-O’Reilly, Stephan ORCID: https://orcid.org/0000-0003-0204-3103
(2021):
Mercury poisoning of a 4-year-old child by indirect contact to a mercury-containing facial cream: A case report.
In: SAGE open medical case reports, Bd. 9: S. 1-5
[PDF, 293kB]
ORCID: https://orcid.org/0000-0002-4851-513X; Asenbauer, Elisabeth; Böhm, Susann; Leiz, Steffen; Peters, Jochen; Nowak, Dennis ORCID: https://orcid.org/0000-0001-7871-8686 und Böse-O’Reilly, Stephan ORCID: https://orcid.org/0000-0003-0204-3103
(2021):
Mercury poisoning of a 4-year-old child by indirect contact to a mercury-containing facial cream: A case report.
In: SAGE open medical case reports, Bd. 9: S. 1-5
[PDF, 293kB]
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias
(2021):
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28
[PDF, 2MB]
Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan und Pandey, Udai Bhan
(2021):
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
In: Nature Communications, Bd. 12, Nr. 1, 2558
Stavsky, Alexandra; Stoler, Ohad; Kostic, Marko; Katoshevsky, Tomer; Assali, Essam A.; Savic, Ivana; Amitai, Yael; Prokisch, Holger; Leiz, Steffen; Daumer-Haas, Cornelia; Fleidervish, Ilya; Perocchi, Fabiana; Gitler, Daniel und Sekler, Israel
(2021):
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
In: Communications Biology, Bd. 4, Nr. 1, 666
[PDF, 3MB]
2020
Wendel, Eva-Maria; Baumann, Matthias; Barisic, Nina; Blaschek, Astrid; Koch, Eliana Coelho de Oliveira; Della Marina, Adela; Diepold, Katharina; Hackenberg, Annette; Hahn, Andreas; Kalle, Thekla von; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Leiz, Steffen; Merkenschlager, Andreas; Nosadini, Margherita; Sartori, Stefano; Schanda, Kathrin; Schimmel, Mareike; Seemann, Larissa; Tuengler, Victoria; Waltz, Stephan; Wegener-Panzer, Andreas; Wiegand, Gert; Reindl, Markus und Rostasy, Kevin
(2020):
High association of MOG-IgG antibodies in children with bilateral optic neuritis.
In: European Journal of Paediatric Neurology, Bd. 27: S. 86-93
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
2019
Borggraefe, Ingo; Tacke, Moritz; Gerstl, Lucia; Leiz, Steffen; Coras, Roland; Blumcke, Ingmar; Giese, Armin; Ertl-Wagner, Birgit; Thiel, Christian T.; Noachtar, Soheyl und Peraud, Aurelia
(2019):
Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy.
In: Epileptic Disorders, Bd. 21, Nr. 1: S. 122-127
2018
Baumann, Matthias; Grams, Astrid; Djurdjevic, Tanja; Wendel, Eva-Maria; Lechner, Christian; Behring, Bettina; Blaschek, Astrid; Diepold, Katharina; Eisenkoelbl, Astrid; Fluss, Joel; Karenfort, Michael; Koch, Johannes; Konuskan, Bahadir; Leiz, Steffen; Merkenschlager, Andreas; Pohl, Daniela; Schimmel, Mareike; Thiels, Charlotte; Kornek, Barbara; Schanda, Kathrin; Reindl, Markus und Rostasy, Kevin
(2018):
MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein.
In: Journal of Neurology, Bd. 265, Nr. 4: S. 845-855
2017
Hennes, Eva-Maria; Baumann, Matthias; Schanda, Kathrin; Anlar, Banu; Bajer-Kornek, Barbara; Blaschek, Astrid; Brantner-Inthaler, Sigrid; Diepold, Katharina; Eisenkolbl, Astrid; Gotwald, Thaddaeus; Kuchukhidze, Georgi; Gruber-Sedlmayr, Ursula; Häusler, Martin; Höftberger, Romana; Karenfort, Michael; Klein, Andrea; Koch, Johannes; Kraus, Verena; Lechner, Christian; Leiz, Steffen; Leypoldt, Frank; Mader, Simone; Marquard, Klaus; Poggenburg, Imke; Pohl, Daniela; Pritsch, Martin; Raucherzauner, Markus; Schimmel, Mareike; Thiels, Charlotte; Tibussek, Daniel; Vieker, Silvia; Zeches, Carolin; Berger, Thomas; Reindl, Markus und Rostasy, Kevin
(2017):
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
In: Neurology, Bd. 89, Nr. 9: S. 900-908
[PDF, 633kB]
2016
Lechner, Christian; Baumann, Matthias; Hennes, Eva-Maria; Schanda, Kathrin; Marquard, Klaus; Karenfort, Michael; Leiz, Steffen; Pohl, Daniela; Venkateswaran, Sunita; Pritsch, Martin; Koch, Johannes; Schimmel, Mareike; Häusler, Martin; Klein, Andrea; Blaschek, Astrid; Thiels, Charlotte; Lücke, Thomas; Gruber-Sedlmayr, Ursula; Kornek, Barbara; Hahn, Andreas; Leypoldt, Frank; Sandrieser, Torsten; Gallwitz, Helge; Stoffels, Johannes; Korenke, Christoph; Reindl, Markus und Rostásy, Kevin
(2016):
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 87, Nr. 8: S. 897-905
[PDF, 777kB]