Peter De Jonghe
Active 1991–2024
- 155
- Papers
- 29,673
- Citations
- 102
- h-index
- 155
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology45.2%
- Medicine32.8%
- Neuroscience20%
- Nursing0.6%
- Immunology and Microbiology0.4%
- Agricultural and Biological Sciences0.3%
- Other0.7%
Topics
- Epilepsy research and treatment5.4%
- Mitochondrial Function and Pathology4.8%
- Hereditary Neurological Disorders4.5%
- Genomics and Rare Diseases4.2%
- Amyotrophic Lateral Sclerosis Research4.1%
- Neuroscience and Neuropharmacology Research4.1%
- Other72.9%
Coauthors
- Vincent Timmerman46
- Jonathan Baets42
- Christine Van Broeckhoven29
- Tine Deconinck27
- Arvid Suls24
- Sarah Weckhuysen23
- Eva Nelis20
- Rikke S. Møller19
- Michaela Auer‐Grumbach17
- Albena Jordanova16
- Els De Vriendt16
- Ingo Helbig16
- Renzo Guerrini16
- Stephan Züchner16
- Berten Ceulemans14
- Carla Marini13
- Jean‐Jacques Martin13
- Samuel F. Berkovic13
- Yvonne Weber13
- Helle Hjalgrim12
- Ingrid E. Scheffer12
- Jan De Bleecker12
- Johannes R. Lemke12
- Carolien G. F. de Kovel11
All papers
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Authors: 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 - Brain 2017 cited by 575
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Authors: Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek, Melanie Bahlo, David J. Balding, Thomas Bast, Larry Baum, Albert J. Becker, Felicitas Becker, Bianca Berghuis, Samuel F. Berkovic, Katja Boysen, Jonathan P. Bradfield, Lawrence C. Brody, Russell J. Buono, Ellen Campbell, Gregory D. Cascino, Claudia B. Catarino, Gianpiero L. Cavalleri, Stacey S. Cherny, Krishna Chinthapalli, Alison J. Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John Craig, Gerrit‐Jan de Haan, Peter De Jonghe, Carolien G. F. de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis Dlugos, Colin P. Doherty, Christian E. Elger, Johan G. Eriksson, Thomas N. Ferraro, Martha Feucht, Ben Francis, André Franke, Jacqueline A. French, Saskia Freytag, Verena Gaus, Eric B. Geller, Christian Gieger, Tracy A. Glauser, Simon Glynn, David B. Goldstein, Hongsheng Gui, Youling Guo, Kevin F. Haas, Håkon Håkonarson, Kerstin Hallmann, Sheryl R. Haut, Erin L. Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Jennifer Jamnadas-Khoda, Michael R. Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūtė, Dorothée Kasteleijn‐Nolst Trenité, Heidi E. Kirsch, Robert C. Knowlton, Bobby P.C. Koeleman, Roland Krause, Martin Krenn, Wolfram S. Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, YL Lau, Anna‐Elina Lehesjoki, Holger Lerche, Costin Leu, Wolfgang Lieb, Dick Lindhout, Warren Lo, Íscia Lopes‐Cendes, Daniel H. Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L. Mills, Nasir Mirza, Martina Moerzinger, Rikke S. Møller, Anne M. Molloy, Hiltrud Muhle, Mark R. Newton, Ping-Wing Ng, Markus M. Nöthen, Peter Nürnberg, Terence J. O’Brien, Karen Oliver and 58 more - Nature Communications 2018 cited by 513
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
Authors: Stephan Züchner, Irina Mersiyanova, M. Muglia, Nisrine Bissar‐Tadmouri, Julie M. Rochelle, Е. Л. Дадали, Mario Zappia, Eva Nelis, A. Patitucci, Jan Senderek, Yeşim Parman, Oleg V. Evgrafov, Peter De Jonghe, Yuji Takahashi, Shoij Tsuji, Margaret A. Pericak‐Vance, Aldo Quattrone, Esra Battologlu, A. V. Polyakov, Vincent Timmerman, J. M. Schröder, Jeffery M. Vance - Nature Genetics 2004 cited by 1,562
- De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Authors: Lieve Claes, Jurgen Del‐Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe - The American Journal of Human Genetics 2001 cited by 1,275
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Authors: Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Håkon Håkonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe and 141 more - The American Journal of Human Genetics 2019 cited by 303
- DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
Authors: Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer‐Grumbach, Klaus Wagner, Peter De Jonghe, John W. Griffin, Kenneth H. Fischbeck, Vincent Timmerman, David R. Cornblath, Phillip F. Chance - The American Journal of Human Genetics 2004 cited by 812
- STXBP1 encephalopathy
Authors: Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen - Neurology 2016 cited by 323
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Authors: Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James M.J. Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam H. Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, R Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Çağlayan, Katalin Štěrbová, Dana Craiu, Dorota Hoffman, Anna‐Elina Lehesjoki, Kaja Kristine Selmer, Christel Depienne, Johannes R. Lemke, Carla Marini, Renzo Guerrini, Bernd A. Neubauer, Tiina Talvik, Eric Leguern, Peter De Jonghe, Sarah Weckhuysen - The American Journal of Human Genetics 2018 cited by 122
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Authors: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amron, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio and 31 more - The American Journal of Human Genetics 2014 cited by 454
- A de novo gain-of-function mutation in SCN11A causes loss of pain perception
Authors: Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke, Theresa Heinrich, Sebastian Gießelmann, Jonathan Baets, Matthias Ebbinghaus, R. Oliver Goral, Tommy Stödberg, J. Christopher Hennings, Markus Bergmann, Janine Altmüller, Hölger Thiele, Andrea Wetzel, Peter Nürnberg, Vincent Timmerman, Peter De Jonghe, Robert Blum, Hans‐Georg Schaible, Joachim Weis, Stefan H. Heinemann, Christian A. Hübner, Ingo Kurth - Nature Genetics 2013 cited by 304
- Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Authors: Ingo Kurth, Torsten Pamminger, J. Christopher Hennings, Désirée Soehendra, Antje K. Huebner, Annelies Rotthier, Jonathan Baets, Jan Senderek, Haluk Topaloğlu, Sandra A. Farrell, Gudrun Nürnberg, Peter Nürnberg, Peter De Jonghe, Andreas Gal, Christoph Kaether, Vincent Timmerman, Christian A. Hübner - Nature Genetics 2009 cited by 256
- De novo variants in neurodevelopmental disorders with epilepsy
Authors: Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L. Helbig, Bobby P.C. Koeleman, Jack A. Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke S. Møller, Bernd A. Neubauer, Aarno Palotie, Manuela Pendziwiat, Pasquale Striano, Sha Tang, Sitao Wu, Annapurna Poduri, Yvonne Weber, Sarah Weckhuysen, Sanjay M. Sisodiya, Mark J. Daly, Ingo Helbig, Dennis Lal, Johannes R. Lemke - Nature Genetics 2018 cited by 318
- Phenotypic spectrum of GABRA1
Authors: Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne 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 - Neurology 2016 cited by 141
- A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
Authors: Ilse Gijselinck, Tim Van Langenhove, Julie van der Zee, Kristel Sleegers, Stéphanie Philtjens, Gernot Kleinberger, Jonathan Janssens, Karolien Bettens, Caroline Van Cauwenberghe, Sandra Pereson, Sebastiaan Engelborghs, Anne Sieben, Peter De Jonghe, Rik Vandenberghe, Patrick Santens, Jan De Bleecker, Githa Maes, Veerle Bäumer, Lubina Dillen, Geert Joris, Ivy Cuijt, Ellen Corsmit, Ellen Elinck, Jasper Van Dongen, Steven Vermeulen, Marleen Van den Broeck, C Vaerenberg, Maria Mattheijssens, Karin Peeters, Wim Robberecht, Patrick Cras, Jean‐Jacques Martin, Peter P. De Deyn, Marc Cruts, Christine Van Broeckhoven - The Lancet Neurology 2011 cited by 628
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Authors: Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova, Albena Jordanova, Berten Ceulemans, Anna Jansen, Danièle Hasaerts, Filip Roelens, Lieven Lagae, Simone C. Yendle, Thorsten Stanley, Sarah E. Heron, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Peter De Jonghe - Annals of Neurology 2011 cited by 514
- Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
Authors: Albena Jordanova, Joy Irobi, Florian P. Thomas, Patrick Van Dijck, Kris Meerschaert, Maarten Dewil, Ines Dierick, An Jacobs, Els De Vriendt, Velina Guergueltcheva, Chitharanjan V. Rao, Ivailo Tournev, Francisco A A Gondim, Marc D’Hooghe, Veerle Van Gerwen, Patrick Callaerts, Ludo Van Den Bosch, Jean‐Pierre Timmermans, Wim Robberecht, Jan Gettemans, Johan M. Thevelein, Peter De Jonghe, Ivo Kremensky, Vincent Timmerman - Nature Genetics 2006 cited by 376
- The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
Authors: Ilse Gijselinck, Sara Van Mossevelde, Julie van der Zee, Anne Sieben, Sebastiaan Engelborghs, Jan De Bleecker, Adrian Ivanoiu, Olivier Deryck, Dieter Edbauer, M. Zhang, Bavo Heeman, Veerle Bäumer, Marleen Van den Broeck, Maria Mattheijssens, Karin Peeters, Ekaterina Rogaeva, Peter De Jonghe, Patrick Cras, J-J Martin, Peter P. De Deyn, Marc Cruts, Christine Van Broeckhoven - Molecular Psychiatry 2015 cited by 247
- Delineating the GRIN1 phenotypic spectrum
Authors: 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 - Neurology 2016 cited by 207
- The phenotypic spectrum of SCN8A encephalopathy
Authors: Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M.L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne Weber - Neurology 2015 cited by 285
- Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Authors: Danique Beijer, Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Devon Bonner, Jacinda B. Sampson, Matthew T. Wheeler, Anahit Mehrabyan, Steven C. Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets - JCI Insight 2021 cited by 73
- Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Authors: Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, André Franke, Markus B. Schilhabel, Johanna Jähn, Hiltrud Muhle, Rainer Boor, Wim Van Paesschen, Roberto Caraballo, Natalio Fejerman, Sarah Weckhuysen, Peter De Jonghe, Jan Larsen, Rikke S. Møller, Helle Hjalgrim, Laura Addis, Shan Tang, Elaine Hughes, Deb K. Pal, Kadi Veri, Ulvi Vaher, Tiina Talvik, Petia Dimova, Rosa Guerrero, José M. Serratosa, Tarja Linnankivi, Anna‐Elina Lehesjoki, Susanne Ruf, Markus Wolff, Sarah E. Buerki, Gabriele Wohlrab, Judith Kroell, Alexandre Datta, Barbara Fiedler, Gerhard Kurlemann, Gerhard Kluger, Andreas Hahn, D Edda Haberlandt, Christina Kutzer, Jürgen Sperner, Felicitas Becker, Yvonne Weber, Martha Feucht, Hannelore Steinböck, Birgit Neophythou, Gabriel M. Ronen, U Gruber‐Sedlmayr, Julia Geldner, Robert J Harvey, Per Hoffmann, Stefan Herms, Janine Altmüller, Mohammad R. Toliat, Hölger Thiele, Peter Nürnberg, Christian Wilhelm, Ulrich Stephani, Ingo Helbig, Holger Lerche, Fritz Zimprich, Bernd A. Neubauer, Saskia Biskup, Sarah von Spiczak - Nature Genetics 2013 cited by 440
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
Authors: Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A. Reed, Ines Dierick, Nathalie Verpoorten, Thomas T. Warner, Christos Proukakis, Peter Van den Bergh, Christine Verellen, Lionel Van Maldergem, Luciano Merlini, Peter De Jonghe, Vincent Timmerman, Andrew H. Crosby, Klaus Wagner - Nature Genetics 2004 cited by 380
- The genetics of Dravet syndrome
Authors: Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Arvid Suls, Peter De Jonghe, Federico Zara, Renzo Guerrini - Epilepsia 2011 cited by 271
- GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
Authors: Johannes R. Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Robert J. Harvey, Victoria M. James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen - Annals of Neurology 2013 cited by 211
