Ohcanbohtosat - U Gruber‐Sedlmayr

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  1. 1
    Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

    Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation Dahkki Andrea Skrabl‐Baumgartner, Barbara Plecko, Wolfgang M. Schmidt, N. König, Michael S. Hershfield, U Gruber‐Sedlmayr, Min Ae Lee‐Kirsch

    Almmustuhtton 2017
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  2. 2
    Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein

    Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein Dahkki Matthias Baumann, Kamil Şahin, Christian Lechner, E. Hennes, Kathrin Schanda, Simone Mader, Michael Karenfort, C. Selch, Martin Häusler, Astrid Eisenkölbl, Michela Salandin, U Gruber‐Sedlmayr, Astrid Blaschek, Verena Kraus, Steffen Leiz, J. Finsterwalder, T. Gotwald, Giorgi Kuchukhidze, Thomas Berger, Markus Reindl, K. Rostásy

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
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  3. 3
    Analysis of <i>ELP4</i>,<i> SRPX2</i>, and interacting genes in typical and atypical rolandic epilepsy

    Analysis of <i>ELP4</i>,<i> SRPX2</i>, and interacting genes in typical and atypical rolandic epilepsy Dahkki Eva M. Reinthaler, Dennis Lal, Wiktor Jurkowski, Martha Feucht, Hannelore Steinböck, U Gruber‐Sedlmayr, Gabriel M. Ronen, Julia Geldner, Edda Haberlandt, Birgit Neophytou, Andreas Hahn, Janine Altmüller, Holger Thiele, Mohammad R. Toliat, Holger Lerche, Peter Nürnberg, Thomas Sander, Bernd A. Neubauer, Fritz Zimprich

    Almmustuhtton 2014
    Viečča ollesdeavstta Viečča ollesdeavstta
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  4. 4
    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

    Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin Dahkki Peter Huppke, Cornelia Brendel, Vera M. Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaële Pitelet, Callum Wilson, U Gruber‐Sedlmayr, Reinhard Ullmann, Stefan A. Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner

    Almmustuhtton 2012
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  5. 5
    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 Dahkki Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, Matthis Synofzik, Natalie Hauser, Michaela Brunner‐Krainz, U Gruber‐Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew B. Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael Gonzalez, Stephan Züchner, Rebecca Schüle, Michael E. Shy, Michaela Auer‐Grumbach

    Almmustuhtton 2015
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  6. 6
    Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease

    Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease Dahkki Christian Lechner, Matthias Baumann, Eva-Maria Hennes, Kathrin Schanda, Klaus Marquard, Michael Karenfort, Steffen Leiz, Daniela Pohl, Sunita Venkateswaran, Martin Pritsch, Johannes Koch, Mareike Schimmel, Martin Häusler, Andrea Klein, Astrid Blaschek, Charlotte Thiels, Thomas Lücke, U Gruber‐Sedlmayr, Barbara Kornek, Andreas Hahn, Frank Leypoldt, Torsten Sandrieser, Helge Gallwitz, Johannes Stoffels, Christoph Korenke, Markus Reindl, Kevin Rostásy

    Almmustuhtton 2015
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  7. 7
    Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome

    Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome Dahkki Eva-Maria Hennes, Matthias Baumann, Kathrin Schanda, Banu Anlar, Barbara Bajer-Kornek, Astrid Blaschek, Sigrid Brantner-Inthaler, Katharina Diepold, Astrid Eisenkölbl, T. Gotwald, Giorgi Kuchukhidze, U Gruber‐Sedlmayr, Martin Häusler, Romana Höftberger, Michael Karenfort, Andrea Klein, Johannes Koch, Verena Kraus, Christian Lechner, Steffen Leiz, Frank Leypoldt, Simone Mader, Klaus Marquard, I. Poggenburg, Daniela Pohl, Martin Pritsch, Markus Raucherzauner, Mareike Schimmel, Charlotte Thiels, Daniel Tibussek, Silvia Vieker, Carolin Zeches, Thomas Berger, Markus Reindl, Kevin Rostásy

    Almmustuhtton 2017
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    Artigo
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  8. 8
    Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome

    Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome Dahkki Eva Wendel, Helen Sophie Thonke, Annikki Bertolini, Matthias Baumann, Astrid Blaschek, Andreas Merkenschlager, Michael Karenfort, Barbara Kornek, Christian Lechner, Daniela Pohl, Martin Pritsch, Kathrin Schanda, Mareike Schimmel, Charlotte Thiels, Stephan Waltz, Gert Wiegand, Banu Anlar, Nina Barišić, Christian U. Blank, Markus Breu, Philip J. Broser, Adela Della Marina, Katharina Diepold, Matthias Eckenweiler, Astrid Eisenkölbl, Michael Freilinger, U Gruber‐Sedlmayr, Annette Hackenberg, T. Iff, Ellen Knierim, Johannes Koch, G Kutschke, Steffen Leiz, Grischa Lischetzki, Margherita Nosadini, Alexander Pschibul, Edith Reiter‐Fink, Doris Rohrbach, Michela Salandin, Stefano Sartori, Jan-Ulrich Schlump, Johannes Stoffels, Jurgis Strautmanis, Daniel Tibussek, Victoria Tüngler, N Utzig, Markus Reindl, Kevin Rostásy

    Almmustuhtton 2022
    Viečča ollesdeavstta Viečča ollesdeavstta
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  9. 9
    16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

    16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy Dahkki Eva M. Reinthaler, Dennis Lal, Sébastien Lebon, Michael S. Hildebrand, Hans‐Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, U Gruber‐Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Mélanie Waldenberger, André Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather C. Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, J. Beckmann, Thomas Sander, Sébastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Julia Geldner, U Gruber‐Sedlmayr, Edda Haberlandt, Gabriel M. Ronen, Laurian Roche, Dennis Lal, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A. Neubauer, Fritz Zimprich, Martina Mörzinger, Martha Feucht, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S. Møller, Laura L. Klitten, Helle Hjalgrim, Rikke S. Møller, Kiel Campus, Ingo Helbig, Hiltrud Muhle, P Ostertag, Sarah von Spiczak, Ulrich Stephani, Peter Nürnberg, Thomas Sander, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß‐Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Diéter Janz, Thomas Sander, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Bobby P.C. Koeleman, Carolien G. F. de Kovel, Dick Lindhout, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
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  10. 10
    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A Dahkki Dalia Kasperavičiūtė, Claudia B. Catarino, Mar Matarín, Costin Leu, Jan Nový, Anna Tostevin, Bárbara Leal, Ellen V.S. Hessel, Kerstin Hallmann, Michael S. Hildebrand, Hans‐Henrik M. Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P. Doherty, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J. Steinhoff, Dominik Zumsteg, Susan Duncan, Reetta Kälviäinen, Kai Eriksson, Anne-Mari Kantanen, Massimo Pandolfo, U Gruber‐Sedlmayr, Kurt Schlachter, Eva M. Reinthaler, Elisabeth Stögmann, Fritz Zimprich, Emilie Théâtre, Colin Smith, Terence J. O’Brien, K. Meng Tan, Slavé Petrovski, Angela Robbiano, Roberta Paravidino, Federico Zara, Pasquale Striano, Michael R. Sperling, Russell J. Buono, Hákon Hákonarson, João Chaves, Paulo Costa, Berta Martins da Silva, António Martins da Silva, P.N.E. de Graan, Bobby P.C. Koeleman, Albert J. Becker, Susanne Schoch, Marec von Lehe, Philipp S. Reif, Felix Rosenow, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Karl Rössler, Michael Buchfelder, Hajo M. Hamer, Katja Kobow, Roland Coras, Ingmar Blümcke, Ingrid E. Scheffer, Samuel F. Berkovic, Michael E. Weale, Norman Delanty, Chantal Depondt, Gianpiero L. Cavalleri, Wolfram S. Kunz, Sanjay M. Sisodiya

    Almmustuhtton 2013
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    Revisão
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