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Number of items: 5.


Marini, Carla and Porro, Alessandro and Rastetter, Agnès and Dalle, Carine and Rivolta, Ilaria and Bauer, Daniel and Oegema, Renske and Nava, Caroline and Parrini, Elena and Mei, Davide and Mercer, Catherine and Dhamija, Radhika and Chambers, Chelsea and Coubes, Christine and Thévenon, Julien and Kuentz, Paul and Julia, Sophie and Pasquier, Laurent and Dubourg, Christèle and Carré, Wilfrid and Rosati, Anna and Melani, Federico and Pisano, Tiziana and Giardino, Maria and Innes, A Micheil and Alembik, Yves and Scheidecker, Sophie and Santos, Manuela and Figueiroa, Sonia and Garrido, Cristina and Fusco, Carlo and Frattini, Daniele and Spagnoli, Carlotta and Binda, Anna and Granata, Tiziana and Ragona, Francesca and Freri, Elena and Franceschetti, Silvana and Canafoglia, Laura and Castellotti, Barbara and Gellera, Cinzia and Milanesi, Raffaella and Mancardi, Maria Margherita and Clark, Damien R. and Kok, Fernando and Helbig, Katherine L. and Ichikawa, Shoji and Sadler, Laurie and Neupauerová, Jana and Laššuthova, Petra and Šterbová, Katalin and Laridon, Annick and Brilstra, Eva and Koeleman, Bobby and Lemke, Johannes R. and Zara, Federico and Striano, Pasquale and Soblet, Julie and Smits, Guillaume and Deconinck, Nicolas and Barbuti, Andrea and DiFrancesco, Dario and LeGuern, Eric and Guerrini, Renzo and Santoro, Bina and Hamacher, Kay and Thiel, Gerhard and Moroni, Anna and DiFrancesco, Jacopo C. and Depienne, Christel (2018):
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
In: Brain : a journal of neurology, 141 (11), pp. 3160-3178, ISSN 1460-2156,

Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O. and Helbig, Katherine L. and Tang, Sha and Willing, Marcia C. and Tinkle, Brad T. and Adams, Darius J. and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M. and Mefford, Heather C. and Myers, Candace T. and Muir, Alison M. and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E. and Brilstra, Eva and van Haelst, Mieke M. and van der Smagt, Jasper J. and Bok, Levinus A. and Møller, Rikke S. and Jensen, Uffe B. and Millichap, John J. and Berg, Anne T. and Goldberg, Ethan M. and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R. and Zackai, Elaine H. and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J. and Lawson, John A. and Roscioli, Tony and Jansen, Floor E. and Ranza, Emmanuelle and Korff, Christian M. and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R. and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A. and Brady, Lauren I. and Wolff, Markus and Dondit, Lutz and Pedro, Helio F. and Parisotto, Sarah E. and Jones, Kelly L. and Patel, Anup D. and Franz, David N. and Vanzo, Rena and Marco, Elysa and Ranells, Judith D. and Di Donato, Nataliya and Dobyns, William B. and Laube, Bodo and Traynelis, Stephen F. and Lemke, Johannes R. (2017):
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
In: Journal of medical genetics, 54 (7), pp. 460-470, ISSN 1468-6244,

Lemke, Johannes R. and Geider, Kirsten and Helbig, Katherine L. and Heyne, Henrike O. and Schütz, Hannah and Hentschel, Julia and Courage, Carolina and Depienne, Christel and Nava, Caroline and Heron, Delphine and Møller, Rikke S. and Hjalgrim, Helle and Lal, Dennis and Neubauer, Bernd A. and Nürnberg, Peter and Thiele, Holger and Kurlemann, Gerhard and Arnold, Georgianne L. and Bhambhani, Vikas and Bartholdi, Deborah and Pedurupillay, Christeen Ramane J. and Misceo, Doriana and Frengen, Eirik and Strømme, Petter and Dlugos, Dennis J. and Doherty, Emily S. and Bijlsma, Emilia K. and Ruivenkamp, Claudia A. and Hoffer, Mariette J. V. and Goldstein, Amy and Rajan, Deepa S. and Narayanan, Vinodh and Ramsey, Keri and Belnap, Newell and Schrauwen, Isabelle and Richholt, Ryan and Koeleman, Bobby P. C. and Sá, Joaquim and Mendonça, Carla and de Kovel, Carolien G. F. and Weckhuysen, Sarah and Hardies, Katia and De Jonghe, Peter and De Meirleir, Linda and Milh, Mathieu and Badens, Catherine and Lebrun, Marine and Busa, Tiffany and Francannet, Christine and Piton, Amélie and Riesch, Erik and Biskup, Saskia and Vogt, Heinrich and Dorn, Thomas and Helbig, Ingo and Michaud, Jacques L. and Laube, Bodo and Syrbe, Steffen (2016):
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
In: Neurology, 86 (23), pp. 2171-8, ISSN 1526-632X,

Lemke, Johannes R. and Hendrickx, Rik and Geider, Kirsten and Laube, Bodo and Schwake, Michael and Harvey, Robert J. and James, Victoria M. and Pepler, Alex and Steiner, Isabelle and Hörtnagel, Konstanze and Neidhardt, John and Ruf, Susanne and Wolff, Markus and Bartholdi, Deborah and Caraballo, Roberto and Platzer, Konrad and Suls, Arvid and De Jonghe, Peter and Biskup, Saskia and Weckhuysen, Sarah (2014):
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
In: Annals of neurology, 75 (1), pp. 147-54, ISSN 1531-8249,

Lemke, Johannes R. and Lal, Dennis and Reinthaler, Eva M. and Steiner, Isabelle and Nothnagel, Michael and Alber, Michael and Geider, Kirsten and Laube, Bodo and Schwake, Michael and Finsterwalder, Katrin and Franke, Andre and Schilhabel, Markus and Jähn, Johanna A. and Muhle, Hiltrud and Boor, Rainer and Van Paesschen, Wim and Caraballo, Roberto and Fejerman, Natalio and Weckhuysen, Sarah and De Jonghe, Peter and Larsen, Jan and Møller, Rikke S. and Hjalgrim, Helle and Addis, Laura and Tang, Shan and Hughes, Elaine and Pal, Deb K. and Veri, Kadi and Vaher, Ulvi and Talvik, Tiina and Dimova, Petia and Guerrero López, Rosa and Serratosa, José M. and Linnankivi, Tarja and Lehesjoki, Anna-Elina and Ruf, Susanne and Wolff, Markus and Buerki, Sarah and Wohlrab, Gabriele and Kroell, Judith and Datta, Alexandre N. and Fiedler, Barbara and Kurlemann, Gerhard and Kluger, Gerhard and Hahn, Andreas and Haberlandt, D. Edda and Kutzer, Christina and Sperner, Jürgen and Becker, Felicitas and Weber, Yvonne G. and Feucht, Martha and Steinböck, Hannelore and Neophythou, Birgit and Ronen, Gabriel M. and Gruber-Sedlmayr, Ursula and Geldner, Julia and Harvey, Robert J. and Hoffmann, Per and Herms, Stefan and Altmüller, Janine and Toliat, Mohammad R. and Thiele, Holger and Nürnberg, Peter and Wilhelm, Christian and Stephani, Ulrich and Helbig, Ingo and Lerche, Holger and Zimprich, Fritz and Neubauer, Bernd A. and Biskup, Saskia and von Spiczak, Sarah (2013):
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
In: Nature genetics, 45 (9), pp. 1067-72, ISSN 1546-1718,

This list was generated on Tue Jun 2 01:13:22 2020 CEST.