Søgeresultater - Karl Martin Klein

Refine Results
  1. 1
    Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

    Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions af Mark Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gécz

    Udgivet 2023
    Få fuldtekst Få fuldtekst
    Revisão
    Føj til favoritter
    Saved in:
  2. 2
    A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

    A novel FAME1 repeat configuration in a European family identified using a combined genomics approach af Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein

    Udgivet 2023
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  3. 3
    Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)

    Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease) af Kathrin Schorlemmer, Sebastian Bauer, Marcus Belke, Anke Hermsen, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Wolfram S. Kunz, Susanne Knake, Felix Rosenow, Adam Strzelczyk

    Udgivet 2013
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  4. 4
    Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique

    Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique af Karl Martin Klein, Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Tatiana Maroilley, Navprabhjot Kaur, Yiping Liu, Tyler Soule, Minette Manalo, Goichiro Tamura, Julia Jacobs, Walter Hader, Gerald Pfeffer, Maja Tarailo‐Graovac

    Udgivet 2024
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  5. 5
    Detecting somatic variants in purified brain <scp>DNA</scp> obtained from surgically implanted depth electrodes in epilepsy

    Detecting somatic variants in purified brain <scp>DNA</scp> obtained from surgically implanted depth electrodes in epilepsy af Rumika Mascarenhas, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Navid Ghaderi, Tatiana Maroilley, Yiping Liu, Tyler Soule, Juan Pablo Appendino, Julia Jacobs, Samuel Wiebe, Walter Hader, Gerald Pfeffer, Maja Tarailo‐Graovac, Karl Martin Klein

    Udgivet 2025
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  6. 6
    Postmarketing experience with brivaracetam in the treatment of epilepsies: A multicenter cohort study from Germany

    Postmarketing experience with brivaracetam in the treatment of epilepsies: A multicenter cohort study from Germany af Isabel Steinig, Felix von Podewils, Gabriel Möddel, Sebastian Bauer, Karl Martin Klein, Esther Paule, Philipp S. Reif, Laurent M. Willems, Johann Philipp Zöllner, Rhina Kunz, Uwe Runge, Gerhard Kurlemann, Susanne Schubert‐Bast, Felix Rosenow, Adam Strzelczyk

    Udgivet 2017
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  7. 7
    Extending the phenotypic spectrum of <i><scp>RBFOX</scp>1</i> deletions: Sporadic focal epilepsy

    Extending the phenotypic spectrum of <i><scp>RBFOX</scp>1</i> deletions: Sporadic focal epilepsy af Dennis Lal, Katharina Pernhorst, Karl Martin Klein, Philipp S. Reif, Rossana Tozzi, Mohammad R. Toliat, Georg Winterer, Bernd A. Neubauer, Peter Nürnberg, Felix Rosenow, Felicitas Becker, Holger Lerche, Wolfram S. Kunz, Mitja Kurki, Per Hoffmann, Albert J. Becker, Emilio Perucca, Federico Zara, Thomas Sander, Yvonne G. Weber

    Udgivet 2015
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  8. 8
    Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus

    Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus af Adam Strzelczyk, Lara Kay, Sebastian Bauer, Ilka Immisch, Karl Martin Klein, Susanne Knake, Alexander B. Kowski, Rhina Kunz, Gerhard Kurlemann, Lisa Langenbruch, Gabriel Möddel, Karen Müller‐Schlüter, Philipp S. Reif, Susanne Schubert‐Bast, Bernhard J. Steinhoff, Isabel Steinig, Laurent M. Willems, Felix von Podewils, Felix Rosenow

    Udgivet 2018
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  9. 9
    Efficacy, Retention, and Tolerability of Brivaracetam in Patients With Epileptic Encephalopathies: A Multicenter Cohort Study From Germany

    Efficacy, Retention, and Tolerability of Brivaracetam in Patients With Epileptic Encephalopathies: A Multicenter Cohort Study From Germany af Laurent M. Willems, Astrid Bertsche, Frank Bösebeck, Frauke Hornemann, Ilka Immisch, Karl Martin Klein, Susanne Knake, Rhina Kunz, Gerhard Kurlemann, Lisa Langenbruch, Gabriel Möddel, Karen Müller‐Schlüter, Felix von Podewils, Philipp S. Reif, Bernhard J. Steinhoff, Isabel Steinig, Felix Rosenow, Susanne Schubert‐Bast, Adam Strzelczyk

    Udgivet 2018
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  10. 10
    Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

    Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany af Adam Strzelczyk, Malin Kalski, Thomas Bast, Adelheid Wiemer‐Kruel, U Bettendorf, Lara Kay, Matthias Kieslich, Gerhard Kluger, Gerhard Kurlemann, Patrick May, Bernd A. Neubauer, Tilman Polster, Arne Herting, Sarah von Spiczak, Regina Trollmann, Markus Wolff, John Irwin, Joe Carroll, Daniel Macdonald, Clive Pritchard, Karl Martin Klein, Felix Rosenow, Susanne Schubert‐Bast

    Udgivet 2019
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  11. 11
    The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlled multicenter study

    The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlle... af Felix Rosenow, Carmen Schade‐Brittinger, Nicole Burchardi, Sebastian Bauer, Karl Martin Klein, Yvonne G. Weber, Holger Lerche, Stefan Evers, Stjepana Kovac, Susanne Hallmeyer‐Elgner, G. Winkler, Joachim Springub, Mathias Niedhammer, Erhard Roth, Ilonka Eisensehr, Jörg Berrouschot, Stephan Arnold, Michael Schröder, Anja Beige, Wolfgang H. Oertel, Adam Strzelczyk, Anja Haag, Philipp S. Reif, Hajo M. Hamer

    Udgivet 2012
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  12. 12
    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria af Ingo Helbig, Erin Rooney Riggs, Carrie‐Anne Barry, Karl Martin Klein, David A. Dyment, Courtney Thaxton, Bekim Sadiković, Tristan T. Sands, Jacy L. Wagnon, Khalida Liaquat, Maria Roberta Cilio, Ghayda Mirzaa, Kristen Park, Erika Axeen, Elizabeth Butler, Tanya Bardakjian, Pasquale Striano, Annapurna Poduri, Rebecca K. Siegert, Andrew R. Grant, Katherine L. Helbig, Heather C. Mefford

    Udgivet 2018
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  13. 13
    A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

    A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany af Adam Strzelczyk, Susanne Schubert‐Bast, Thomas Bast, U Bettendorf, Barbara Fiedler, Hajo M. Hamer, Arne Herting, Malin Kalski, Lara Kay, Matthias Kieslich, Karl Martin Klein, Gerhard Kluger, Gerhard Kurlemann, Patrick May, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Ulrich Stephani, Regina Trollmann, Adelheid Wiemer‐Kruel, Markus Wolff, John Irwin, Joe Carroll, Clive Pritchard, Felix Rosenow

    Udgivet 2019
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  14. 14
    Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

    Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies af Simona Balestrini, Daniela Chiarello, Μαρία Γώγου, Katri Silvennoinen, Clinda Puvirajasinghe, Wendy D. Jones, Philipp S. Reif, Karl Martin Klein, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Susanne Schubert‐Bast, Ingo Borggraefe, Antonietta Coppola, Serena Troisi, Rikke S. Møller, Antonella Riva, Pasquale Striano, Federico Zara, Cheryl Hemingway, Carla Marini, Anna Rosati, Davide Mei, Martino Montomoli, Renzo Guerrini, J. Helen Cross, Sanjay M. Sisodiya

    Udgivet 2021
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  15. 15
    Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

    Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes af Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluç Yiş, Carol Saunders, Martin B. Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan M. Goldberg, Eric D. Marsh, Sudha Kilaru Kessler, Christina Bergqvist, Laura K. Conlin, Bryan L. Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R. Lemke, Marie-José van den Boogaardt, Rikke S. Møller, Bobby P.C. Koeleman

    Udgivet 2017
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  16. 16
    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood af Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtová, Melanie Leffler, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Carla Marini, Dragan Marjanović, Laure Mazzola, Sarah M. Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne G. Weber, Elizabeth E. Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

    Udgivet 2022
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  17. 17
    Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

    Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies af Dennis Lal, Ann‐Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G. F. de Kovel, Dorothee Kasteleijn‐Nolst Trenité, Anja C. M. Sonsma, Bobby P.C. Koeleman, Dick Lindhout, Yvonne G. Weber, Holger Lerche, Claudia Kapser, Christoph J. Schankin, Wolfram S. Kunz, Rainer Surges, Christian E. Elger, Verena Gaus, Bettina Schmitz, Katherine L. Helbig, Hiltrud Muhle, Ulrich Stephani, Karl Martin Klein, Felix Rosenow, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, André Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, Thomas Sander

    Udgivet 2015
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  18. 18
    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly af Katia Hardies, Patrick May, Tania Djémié, Oana Tarța-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudi Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, Zaid Afawi, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Christel Depienne, Carolien G. F. de Kovel, Petia Dimova, Rosa Guerrero, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah von Spiczak, Yvonne G. Weber, Federico Zara

    Udgivet 2014
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  19. 19
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy af Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi

    Udgivet 2020
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  20. 20
    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy af Katherine L. Helbig, Heather C. Mefford, Andrew J. Sharp, Michel Guipponi, Marco Fichera, André Franke, Hiltrud Muhle, Carolien G. F. de Kovel, Carl Baker, Sarah von Spiczak, Katherine L. Kron, Ines Steinich, Ailing A. Kleefuß‐Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Fritz Zimprich, L Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit‐Jan de Haan, Rikke S. Møller, Helle Hjalgrim, D Luciano, Michael Wittig, Michael Nothnagel, Christian E. Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P.C. Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E. Eichler, Thomas Sander

    Udgivet 2009
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:

Søgeredskaber: