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  1. Reinhardt, Annekathrin [Author]; Pfister, Kristin [Author]; Schrimpf, Daniel [Author]; Stichel, Damian [Author]; Sahm, Felix [Author]; Reuss, David [Author]; Capper, David [Author]; Wefers, Annika K. [Author]; Ebrahimi, Azadeh [Author]; Sill, Martin [Author]; Felsberg, Jörg [Author]; Reifenberger, Guido [Author]; Becker, Albert J. [Author]; Prinz, Marco [Author]; Staszewski, Ori [Author]; Hartmann, Christian [Author]; Schittenhelm, Jens Florian [Author]; Gramatzki, Dorothee [Author]; Weller, Michael [Author]; Olar, Adriana [Author]; Rushing, Elisabeth Jane [Author]; Bergmann, Markus [Author]; Farrell, Michael A. [Author]; Blümcke, Ingmar [Author]; [...]

    Anaplastic ganglioglioma : a diagnosis comprising several distinct tumour types : original article

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    December 2022

    Published in: Neuropathology & applied neurobiology ; 48(2022), 7 vom: Dez., Artikel-ID e12847, Seite 1-14

  12. Carvill, Gemma L.; McMahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; Møller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

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    Elsevier BV, 2015

    Published in: The American Journal of Human Genetics

  13. Reinhardt, Annekathrin; Pfister, Kristin; Schrimpf, Daniel; Stichel, Damian; Sahm, Felix; Reuss, David E.; Capper, David; Wefers, Annika K.; Ebrahimi, Azadeh; Sill, Martin; Felsberg, Joerg; Reifenberger, Guido; Becker, Albert; Prinz, Marco; Staszewski, Ori; Hartmann, Christian; Schittenhelm, Jens; Gramatzki, Dorothee; Weller, Michael; Olar, Adriana; Rushing, Elisabeth Jane; Bergmann, Markus; Farrell, Michael A.; Blümcke, Ingmar; [...]

    Anaplastic ganglioglioma—A diagnosis comprising several distinct tumour types

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    Wiley, 2022

    Published in: Neuropathology and Applied Neurobiology

  14. Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F.; Dimova, Petia; Guerrero-López, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; [...]

    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

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    Oxford University Press (OUP), 2015

    Published in: Human Molecular Genetics

  15. Mouthaan, Brian E.; Rados, Matea; Barsi, Péter; Boon, Paul; Carmichael, David W.; Carrette, Evelien; Craiu, Dana; Cross, J. Helen; Diehl, Beate; Dimova, Petia; Fabo, Daniel; Francione, Stefano; Gaskin, Vladislav; Gil‐Nagel, Antonio; Grigoreva, Elena; Guekht, Alla; Hirsch, Edouard; Hecimovic, Hrvoje; Helmstaedter, Christoph; Jung, Julien; Kalviainen, Reetta; Kelemen, Anna; Kimiskidis, Vasilios; Kobulashvili, Teia; [...]

    Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe

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    Wiley, 2016

    Published in: Epilepsia

  16. Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; [...]

    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

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    Springer Science and Business Media LLC, 2016

    Published in: European Journal of Human Genetics

  17. Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, José; Lemke, Johannes R.; Hoffman-Zacharska, Dorota; Szczepanik, Elzbieta; Barisic, Nina; Komarek, Vladimir; [...]

    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

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    Elsevier BV, 2013

    Published in: The American Journal of Human Genetics

  18. Lemke, Johannes R; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; Larsen, Jan; Møller, Rikke S; Hjalgrim, Helle; Addis, Laura; [...]

    Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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    Springer Science and Business Media LLC, 2013

    Published in: Nature Genetics

  19. Appenzeller, Silke; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Dimova, Petia; Djémié, Tania; Gormley, Padhraig; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Kuhlenbäumer, Gregor; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; [...]

    De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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    Elsevier BV, 2017

    Published in: The American Journal of Human Genetics

  20. Appenzeller, Silke; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Dimova, Petia; Djémié, Tania; Gormley, Padhraig; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Kuhlenbäumer, Gregor; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; [...]

    De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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    Elsevier BV, 2014

    Published in: The American Journal of Human Genetics