Search Results - Thomas Schmitt‐Mechelke

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  1. 1
    A case of SUDEP in a patient with Dravet syndrome with <i>SCN1A</i> mutation

    A case of SUDEP in a patient with Dravet syndrome with <i>SCN1A</i> mutation by François Le Gal, Christian Korff, Christine Monso‐Hinard, Michael T. Mund, Michael A. Morris, Alain Malafosse, Thomas Schmitt‐Mechelke

    Published 2010
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  2. 2
    Co‐occurring malformations of cortical development and <i><scp>SCN</scp>1A</i> gene mutations

    Co‐occurring malformations of cortical development and <i><scp>SCN</scp>1A</i> gene mutations by Carmen Barba, Elena Parrini, Roland Coras, Anna Galuppi, Dana Craiu, Gerhard Kluger, Antonia Parmeggiani, Tom Pieper, Thomas Schmitt‐Mechelke, Pasquale Striano, Flavio Giordano, Ingmar Blümcke, Renzo Guerrini

    Published 2014
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  3. 3
    Cerebral sinus venous thrombosis in Swiss children

    Cerebral sinus venous thrombosis in Swiss children by Sebastian Grunt, Kevin Wingeier, E Wehrli, Eugen Boltshauser, Andrea Capone, Joël Fluss, Danielle Gubser-Mercati, Pierre‐Yves Jeannet, Elmar Keller, J. Marcoz, Thomas Schmitt‐Mechelke, Christian Weber, M Weissert, Maja Steinlin

    Published 2010
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  4. 4
    Factors affecting cognitive outcome in early pediatric stroke

    Factors affecting cognitive outcome in early pediatric stroke by Martina Studer, Eugen Boltshauser, Andrea Mori, Alexandre Datta, Joël Fluss, Danielle Mercati, Annette Hackenberg, Elmar Keller, Oliver Maier, Jean‐Pierre Marcoz, Gianpaolo Ramelli, Claudia Poloni, Regula Schmid, Thomas Schmitt‐Mechelke, E Wehrli, Theda Heinks, Maja Steinlin

    Published 2014
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  5. 5
    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study by Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, T. Iff, Thomas Schmitt‐Mechelke, K. Otten, Annette Hackenberg, Marie‐Claude Addor, Andrea Klein, Silvia Azzarello‐Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch

    Published 2018
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  6. 6
    Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

    Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 by Derek Neilson, Mark D. Adams, Caitlin M.D. Orr, Deborah K. Schelling, Robert M. Eiben, Douglas S. Kerr, Jane Anderson, Alexander G. Bassuk, Ann Bye, Anne-Marie Childs, Antonia Clarke, Yanick J. Crow, Maja Di Rocco, Christian Dohna‐Schwake, Gregor Dueckers, Alfonso Fasano, Artemis Gika, Dimitris Gionnis, Mark Gorman, Padraic J. Grattan‐Smith, Annette Hackenberg, Alice Kuster, Markus Lentschig, Eduardo López‐Laso, Elysa J. Marco, Sotiria Mastroyianni, Julie Perrier, Thomas Schmitt‐Mechelke, Serenella Servidei, Angeliki Skardoutsou, Peter Uldall, Marjo S. van der Knaap, Karrie Goglin, David L. Tefft, Cristin Aubin, Philip L. De Jager, David A. Hafler, Matthew L. Warman

    Published 2009
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  7. 7
    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy by Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava, Alice Masurel, Thibaud Jouan, Floor E. Jansen, Margaret Au, Agnes H. Chen, M. Cho, Yannis Duffourd, Ekaterina Lozier, Fedor A. Konovalov, Artem Sharkov, С. А. Коростелев, Benoit Urteaga, Patricia Dickson, M. Concepcion Nuñez Pardo de Vera, Julian A. Martínez‐Agosto, Anaïs Begemann, Markus Zweier, Thomas Schmitt‐Mechelke, Anita Rauch, Christophe Philippe, Koen L.I. van Gassen, S. F. Nelson, John M. Graham, Jennifer Friedman, Laurence Faivre, Henry J. Lin, Christel Thauvin‐Robinet, Antonio Vitobello

    Published 2018
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  8. 8
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders by Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaëtan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot‐Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, María J. Miranda, Maja Hempel, Eva H. Brilstra, Nine Knoers, Nienke E. Verbeek, Marjan van Kempen, Kees P. J. Braun, Grazia M.S. Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller

    Published 2017
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