Search Results - Karl Martin Klein
- Showing 1 - 12 results of 12
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Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy by Sarah Martin, Sarah Martin, Adam Strzelczyk, Adam Strzelczyk, Adam Strzelczyk, Silvia Lindlar, Silvia Lindlar, Kristina Krause, Kristina Krause, Philipp S. Reif, Philipp S. Reif, Katja Menzler, Katja Menzler, Andreas G. Chiocchetti, Andreas G. Chiocchetti, Felix Rosenow, Felix Rosenow, Felix Rosenow, Susanne Knake, Susanne Knake, Karl Martin Klein, Karl Martin Klein, Karl Martin Klein, Karl Martin Klein
Published 2019-09-01
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A novel FAME1 repeat configuration in a European family identified using a combined genomics approach by Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein
Published 2023-06-01
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Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma by Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic
Published 2023-01-01
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The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing by Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Published 2023-06-01
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Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature by Johann Philipp Zöllner, Janina Grau, Felix Rosenow, Matthias Sauter, Markus Knuf, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Susanne Knake, Klaus Marquard, Sascha Meyer, Anna H. Noda, Felix von Podewils, Hannah Schäfer, Charlotte Thiels, Laurent M. Willems, Bianca Zukunft, Susanne Schubert-Bast, Adam Strzelczyk
Published 2021-06-01
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Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany by Johann Philipp Zöllner, Nadine Conradi, Matthias Sauter, Markus Knuf, Susanne Knake, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Klaus Marquard, Sascha Meyer, Anna H. Noda, Felix von Podewils, Hannah Schäfer, Charlotte Thiels, Bianca Zukunft, Susanne Schubert-Bast, Janina Grau, Laurent M. Willems, Felix Rosenow, Jens-Peter Reese, Adam Strzelczyk
Published 2021-06-01
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Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study by Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich, Karl Martin Klein, Kerstin A. Klotz, Gerhard Kluger, Markus Knuf, Thomas Mayer, Klaus Marquard, Sascha Meyer, Hiltrud Muhle, Karen Müller-Schlüter, Anna H. Noda, Susanne Ruf, Matthias Sauter, Jan-Ulrich Schlump, Steffen Syrbe, Charlotte Thiels, Regina Trollmann, Bernd Wilken, Laurent M. Willems, Felix Rosenow, Adam Strzelczyk
Published 2021-06-01
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 by Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Published 2019-10-01
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Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin by Isabelle Boothman, Isabelle Boothman, Isabelle Boothman, Lisa M. Clayton, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala
Published 2023-09-01
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 by Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Published 2019-10-01
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