Search Results - Thomas Dorn

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  1. 1
    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25... by Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht, Philipp Berger, Ueli Suter, Bernal Morera-Brenes, Gerardo Del Valle, James R. Lupski, Arif B. Ekici, Francesca Pasutto, Sabine Endele, Ramiro Barrantes, Corinna Berghoff, Martin Berghoff, B. Neundörfer, Dieter Heuß, Thomas Dorn, Peter Young, Lisa Santolin, Thomas Uhlmann, Michael Meisterernst, Michael W. Sereda, Gerd Meyer zu Hörste, Klaus‐Armin Nave, André Reis, Bernd Rautenstrauß

    Published 2009
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  2. 2
    Targeted next generation sequencing as a diagnostic tool in epileptic disorders

    Targeted next generation sequencing as a diagnostic tool in epileptic disorders by Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki, Susi Strozzi, Barbara Goeggel Simonetti, Sebastian Grunt, Maja Steinlin, Michael Alber, Markus Wolff, Thomas Klopstock, Eva Christina Prott, Rüdiger Lorenz, Christiane Spaich, Sabine Rona, Maya Lakshminarasimhan, Judith F. Kroll, Thomas Dorn, Günter Krämer, Matthis Synofzik, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Detlef Böhm, Saskia Biskup

    Published 2012
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  3. 3
    The spectrum of<i>WRN</i>mutations in Werner syndrome patients

    The spectrum of<i>WRN</i>mutations in Werner syndrome patients by Shurong Huang, Lin Lee, Nancy Hanson, C Lenaerts, Holger Hoehn, Martin Poot, Craig D. Rubin, Da-Fu Chen, Chih‐Chao Yang, Heike Juch, Thomas Dorn, Roland Spiegel, Elif A Oral, Mohammed Abid, Carla Battisti, Emanuela Lucci‐Cordisco, Giovanni Neri, Erin H. Steed, Alexa Kidd, William L. Isley, David Showalter, Janet L. Vittone, A. Konstantinow, Johannes Ring, Peter Meyer, Sharon L. Wenger, A. von Herbay, Uwe Wollina, Markus Schuelke, Carin R. Huizenga, Dru F. Leistritz, George M. Martin, Shahzad I. Mian, Junko Oshima

    Published 2006
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  4. 4
    Diagnostic implications of genetic copy number variation in epilepsy plus

    Diagnostic implications of genetic copy number variation in epilepsy plus by Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik, Berten Ceulemans, J. Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman‐Zacharska, R. Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R. Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C. Mefford, Deborah Morrogh, Peter Nüernberg, Aarno Palotie, An‐Sofie Schoonjans, Pasquale Striano, Elżbieta Szczepanik, Anna Tostevin, Joris Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J. Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M. Sisodiya, Carla Marini

    Published 2019
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  5. 5
    Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

    Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome by Mariella Simon, Élodie M. Richard, Xinjian Wang, Mohsin Shahzad, Vincent Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Dávila, Sabiha Nazli, Saege Hancock, Margret Yu, J. Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G. Newman, José E. Abdenur, Arnold Starr, Rashmi S. Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N. Khan, Ronghua Li, Min‐Xin Guan, Thomas B. Friedman, Doris K. Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C. Wallace, Zubair M. Ahmed, Taosheng Huang, Saima Riazuddin

    Published 2015
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  6. 6
    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy by Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

    Published 2015
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  7. 7
    Phenotypic spectrum of <i>GABRA1</i>

    Phenotypic spectrum of <i>GABRA1</i> by Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne G. Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H.G. Larsen, Hans A. Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Abdallah F. Elias, Cindy Hudson, Katherine L. Helbig, Susanne Schubert‐Bast, Maria Rosaria Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman‐Zacharska, Hande Çağlayan, Ingo Helbig, José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic

    Published 2016
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  8. 8
    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study by Dalia Kasperavičiūtė, Claudia B. Catarino, Erin L. Heinzen, Chantal Depondt, Gianpiero L. Cavalleri, Luís Otávio Sales Ferreira Caboclo, Sarah K. Tate, Jennifer Jamnadas-Khoda, Krishna Chinthapalli, Lisa M. Clayton, Kevin V. Shianna, Rodney A. Radtke, Mohamad A. Mikati, William Gallentine, Aatif M. Husain, Saud Alhusaini, David Leppert, Lefkos Middleton, Rachel A. Gibson, Michael R. Johnson, Paul M. Matthews, David A. Hosford, Kjell Heuser, Leslie Amos, Marcos Ortega, Dominik Zumsteg, Heinz Gregor Wieser, Bernhard J. Steinhoff, Günter Krämer, Jörg Hansen, Thomas Dorn, Anne-Mari Kantanen, Leif Gjerstad, Terhi Peuralinna, Dena Hernández, Kai Eriksson, Reetta Kälviäinen, Colin P. Doherty, Nicholas Wood, Massimo Pandolfo, John S. Duncan, Josemir W. Sander, Norman Delanty, David B. Goldstein, Sanjay M. Sisodiya

    Published 2010
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  9. 9
    Clinical spectrum of <i>STX1B</i> -related epileptic disorders

    Clinical spectrum of <i>STX1B</i> -related epileptic disorders by Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cécilia Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess‐Walsh, Bryce A. Mendelsohn, Adam L. Numis, Maria Roberta Cilio, Wim Van Paesschen, Lene Lavard Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sáenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris Vavoulis, Samantha J.L. Knight, Jenny C. Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H. Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W. Klee, Gerhard Kluger, Daniel H. Lowenstein, Sarah Weckhuysen, Deb K. Pal, Ingo Helbig, Renzo Guerrini, Rhys H. Thomas, Mark I. Rees, Gaëtan Lesca, Sanjay M. Sisodiya, Yvonne G. Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert

    Published 2019
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  10. 10
    Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

    Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes by Erin L. Heinzen, Rodney A. Radtke, Thomas Urban, Gianpiero L. Cavalleri, Chantal Depondt, Anna C. Need, Sophie Nicole, Paola Nicoletti, Dongliang Ge, Claudia B. Catarino, John S. Duncan, Dalia Kasperavičiūtė, Sarah K. Tate, Luís Otávio Sales Ferreira Caboclo, Josemir W. Sander, Lisa M. Clayton, Kristen N. Linney, Kevin V. Shianna, Curtis Gumbs, Jason P. Smith, Kenneth Cronin, Jessica M. Maia, Colin P. Doherty, Massimo Pandolfo, David Leppert, Lefkos Middleton, Rachel A. Gibson, Michael R. Johnson, Paul M. Matthews, David A. Hosford, Reetta Kälviäinen, Kai Eriksson, Anne-Mari Kantanen, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J. Steinhoff, Heinz Gregor Wieser, Dominik Zumsteg, Marcos Ortega, Nicholas Wood, Julie Huxley‐Jones, Mohamad A. Mikati, William Gallentine, Aatif M. Husain, Patrick G. Buckley, R.L. Stallings, Mihai V. Podgoreanu, Norman Delanty, Sanjay M. Sisodiya, David B. Goldstein

    Published 2010
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  11. 11
    Delineating the <i>GRIN1</i> phenotypic spectrum

    Delineating the <i>GRIN1</i> phenotypic spectrum by Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike Heyne, Hannah M. Schutz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Héron, Rikke S. Møller, Helle Hjalgrim, Dennis Lal, Bernd A. Neubauer, Peter Nürnberg, Hölger Thiele, Gerhard Kurlemann, Georgianne L. Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J. Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis Dlugos, Emily S Doherty, Emilia K. Bijlsma, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Amy B. Goldstein, Deepa Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G. F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meırleır, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe

    Published 2016
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  12. 12
    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 by 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

    Published 2013
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  13. 13
    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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  14. 14
    The landscape of epilepsy-related GATOR1 variants

    The landscape of epilepsy-related GATOR1 variants by Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaëtan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Édouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Sanjay M. Sisodiya, Simona Balestrini, Natasha E. Schoeler, Laura Hernandez‐Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, C. L. P. Deckers, Bianca Berghuis, Ilse Wegner, Erik H. Niks, Floor E. Jansen, Kees P. J. Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, M. Jacquemont, Caroline Nava, Eric LeGuern, Sophie Julia, Antonio Gambardella, G. D’Orsi, Giovanni Crichiutti, Laurence Faivre, Véronique Darmency, Barbora Beňová, Pavel Kršek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartoloméi, Anne Lépine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard‐Mousnier, Julien Thévenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller‐Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostásy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

    Published 2018
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