Localization and regulation of dopamine receptor D4 expression in the adult and developing rat retina von Klitten, Laura L., Rath, Martin F., Coon, Steven L., Kim, Jong-So, Klein, David C., Møller, Morten

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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency von Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Møller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M., Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A., Tommerup, Niels, Immken, LaDonna, Beauchamp, Miriam H., Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A., Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L., Di Cristo, Graziella

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Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders von Duong, Linh, Klitten, Laura L., Møller, Rikke S., Ingason, Andrés, Jakobsen, Klaus D., Skjødt, Celina, Didriksen, Michael, Hjalgrim, Helle, Werge, Thomas, Tommerup, Niels

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Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy von Møller, Rikke S., Weber, Yvonne G., Klitten, Laura L., Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S., Mefford, Heather C., Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Stefan, Rückert, Ina‐Maria, Wichmann, H.‐Erich, Ernst, Jan P., Schurmann, Claudia, Grabe, Hans J., Tommerup, Niels, Stephani, Ulrich, Lerche, Holger, Hjalgrim, Helle, Helbig, Ingo, Sander, Thomas

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A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA) von Klitten, Laura L., Møller, Rikke S., Nikanorova, Marina, Silahtaroglu, Asli, Hjalgrim, Helle, Tommerup, Niels

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Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies von Baumgart, Anna, Spiczak, Sarah von, Verhoeven-Duif, Nanda M., Møller, Rikke S., Boor, Rainer, Muhle, Hiltrud, Jähn, Johanna A., Klitten, Laura L., Hjalgrim, Helle, Lindhout, Dick, Stephani, Ulrich, van Kempen, Marjan J. A., Helbig, Ingo

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Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family von Duong, Linh T.T, Hoeffding, Louise K, Petersen, Kirsten B, Knudsen, Charlotte D, Thygesen, Johan H, Klitten, Laura L, Tommerup, Niels, Ingason, Andrés, Werge, Thomas

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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy von KLITTEN, Laura L, MØLLER, Rikke S, RAVN, Kirstine, HJALGRIM, Helle, TOMMERUP, Niels

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Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy von Mosbech, Mai‐Britt, Olsen, Anne S. B., Neess, Ditte, Ben‐David, Oshrit, Klitten, Laura L., Larsen, Jan, Sabers, Anne, Vissing, John, Nielsen, Jørgen E., Hasholt, Lis, Klein, Andres D., Tsoory, Michael M., Hjalgrim, Helle, Tommerup, Niels, Futerman, Anthony H., Møller, Rikke S., Færgeman, Nils J.

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9q subtelomeric deletion syndrome with diaphragmatic hernia von Klitten, Laura L., Tommerup, Niels, Hjalgrim, Helle, Møller, Rikke S.

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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies von Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G, Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C M, Koeleman, Bobby P, Lindhout, Dick, Weber, Yvonne G, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J, Kunz, Wolfram S, Surges, Rainer, Elger, Christian E, Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M, Rosenow, Felix, Neubauer, Bernd A, Reinthaler, Eva M, Zimprich, Fritz, Feucht, Martha, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas

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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy von Reinthaler, Eva M, Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S, Dahl, Hans-Henrik M, Regan, Brigid M, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M, Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J, Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R, Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E, Berkovic, Samuel F, Beckmann, Jacques S, Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A

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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy von Lal, Dennis, Trucks, Holger, Møller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Kovel, Carolien G. F., Visscher, Frank, Weber, Yvonne G., Lerche, Holger, Becker, Felicitas, Schankin, Christoph J., Neubauer, Bernd A., Surges, Rainer, Kunz, Wolfram S., Zimprich, Fritz, Franke, Andre, Illig, Thomas, Ried, Janina S., Leu, Costin, Nürnberg, Peter, Sander, Thomas

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Investigation of GRIN2A in common epilepsy phenotypes von Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna-Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J, Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R

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A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA): Balanced Translocation Disrupts... von Klitten, Laura L., Møller, Rikke S., Nikanorova, Marina, Silahtaroglu, Asli, Hjalgrim, Helle, Tommerup, Niels

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Atypical Vitamin B 6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies von Baumgart, Anna, Spiczak, Sarah von, Verhoeven-Duif, Nanda M., Møller, Rikke S., Boor, Rainer, Muhle, Hiltrud, Jähn, Johanna A., Klitten, Laura L., Hjalgrim, Helle, Lindhout, Dick, Stephani, Ulrich, van Kempen, Marjan J. A., Helbig, Ingo

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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy: Letter von Klitten, Laura L, Møller, Rikke S, Ravn, Kirstine, Hjalgrim, Helle, Tommerup, Niels

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