खोज परिणाम - Christian Korff

  • प्रदर्शित 1 - 19 परिणाम 19
परिणाम को परिष्कृत करें
  1. 1
    A Review of Targeted Therapies for Monogenic Epilepsy Syndromes

    A Review of Targeted Therapies for Monogenic Epilepsy Syndromes द्वारा Vincent Zimmern, Berge A. Minassian, Christian Korff

    प्रकाशित 2022
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    Revisão
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  2. 2
    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 द्वारा François Le Gal, Christian Korff, Christine Monso‐Hinard, Michael T. Mund, Michael A. Morris, Alain Malafosse, Thomas Schmitt‐Mechelke

    प्रकाशित 2010
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    Artigo
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  3. 3
    Yield of MRI, high-density electric source imaging (HD-ESI), SPECT and PET in epilepsy surgery candidates

    Yield of MRI, high-density electric source imaging (HD-ESI), SPECT and PET in epilepsy surgery candidates द्वारा Agustina M. Lascano, Thomas Perneger, Serge Vulliémoz, Laurent Spinelli, Valentina Garibotto, Christian Korff, María Isabel Vargas, Christoph M. Michel, Margitta Seeck

    प्रकाशित 2015
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    Artigo
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  4. 4
    FOOD POISONING AS A CAUSE OF ACUTE LIVER FAILURE

    FOOD POISONING AS A CAUSE OF ACUTE LIVER FAILURE द्वारा Klara M. Posfay‐Barbe, Jacques Schrenzel, Joachim Frey, René Studer, Christian Korff, Dominique C. Belli, Paloma Parvex, Peter C. Rimensberger, Michela Schäppi

    प्रकाशित 2008
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    Artigo
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    में बचाया:
  5. 5
    Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report

    Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report द्वारा Mary Kurian, Christian Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R. Nordli, Thomas Bast

    प्रकाशित 2017
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    Artigo
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  6. 6
    Epileptic networks are strongly connected with and without the effects of interictal discharges

    Epileptic networks are strongly connected with and without the effects of interictal discharges द्वारा Giannina Rita Iannotti, Frédéric Grouiller, María Centeno, David W. Carmichael, Eugenio Abela, Roland Wiest, Christian Korff, Margitta Seeck, Christoph M. Michel, Francesca Pittau, Serge Vulliémoz

    प्रकाशित 2016
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    Artigo
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  7. 7
    Clinical and genetic spectrum of SCN2A-associated episodic ataxia

    Clinical and genetic spectrum of SCN2A-associated episodic ataxia द्वारा Niklas Schwarz, Thomas Bast, Eija Gaily, G. Golla, Kathleen M. Gorman, Lyn R. Griffiths, Andreas Hahn, Juliette Hukin, Marissa King, Christian Korff, María J. Miranda, Rikke S. Møller, Bernd A. Neubauer, Robert A. Smith, Thomas Smol, Pasquale Striano, B. Stroud, María Vaccarezza, Gerhard Kluger, Holger Lerche, Walid Fazeli

    प्रकाशित 2019
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    Artigo
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  8. 8
    Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

    Effectiveness of antiepileptic therapy in patients with PCDH19 mutations द्वारा J Lotte, Thomas Bast, Peter Borusiak, Antonietta Coppola, J. Helen Cross, Petia Dimova, András Fogarasi, Irene Graneß, Renzo Guerrini, Helle Hjalgrim, Reinhard Keimer, Christian Korff, Gerhard Kurlemann, Steffen Leiz, M Linder-Lucht, Tobias Loddenkemper, Christine Makowski, Christian Mühe, Joost Nicolai, Marina Nikanorova, Simona Pellacani, Sunny Philip, Susanne Ruf, Ivan Sánchez Fernández, Kurt Schlachter, Pasquale Striano, Biayna Sukhudyan, Deyana Valcheva, R. Jeroen Vermeulen, Tanja Weisbrod, Bernd Wilken, Philipp Wolf, Gerhard Kluger

    प्रकाशित 2016
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    Artigo
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  9. 9
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis द्वारा Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung‐Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven A. Skinner, Raymond J. Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endzinienė, Fanny Kortüm, Natasha J. Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne G. Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter Krawitz

    प्रकाशित 2018
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    Artigo
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  10. 10
    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood द्वारा 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

    प्रकाशित 2022
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    Artigo
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  11. 11
    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 द्वारा 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

    प्रकाशित 2015
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    Artigo
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  12. 12
    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy

    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy द्वारा Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaëtan Lesca, Agnès Rastetter, Benoît Gachet, Yannick Marie, Georg Christoph Korenke, Ingo Borggraefe, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Mariola Rudzka‐Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Rieß, Stefanie Beck‐Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, М. Б. Миронов, M. Yu. Bobylоva, К. Yu. Мukhin, Laura Hernandez‐Hernandez, Bridget H. Maher, Sanjay M. Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T. Myers, Heather C. Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R. Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

    प्रकाशित 2016
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    Artigo
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  13. 13
    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies द्वारा Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli

    प्रकाशित 2017
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    Artigo
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  14. 14
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy द्वारा Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    प्रकाशित 2019
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    Artigo
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  15. 15
    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature

    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature द्वारा Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller

    प्रकाशित 2020
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    Revisão
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  16. 16
    <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes

    <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes द्वारा Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James J. Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P.A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez‐Rangel, Nada Houcinat, Magalie Barth, Nicolette S. den Hollander, Mariette J. V. Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djémié, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R. Lemke, Christian Korff, Heather C. Mefford, Candace T. Meyers, Zsuzsanna Siegler, Susan M. Hiatt, Gregory M. Cooper, E. Martina Bebin, Lot Snijders Blok, Hermine E. Veenstra‐Knol, Evan H. Baugh, Eva H. Brilstra, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Anya Revah‐Politi, Elaine M. Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cédric Le Caignec, Brigitte Gilbert‐Dussardier, Frédéric Bilan, Erin L. Heinzen, David B. Goldstein, Servi J.C. Stevens, Tristan T. Sands

    प्रकाशित 2018
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    Artigo
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  17. 17
    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU द्वारा Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

    प्रकाशित 2017
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    Artigo
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  18. 18
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects द्वारा Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    प्रकाशित 2017
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    Artigo
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  19. 19
    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns द्वारा Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    प्रकाशित 2020
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    Artigo
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