Bowhead NEIL1: molecular cloning, characterization, and enzymatic properties von Holm, Signe, Larsen, Rikke Møller, Holst, Camilla Myrup, Heide-Jørgensen, Mads Peter, Steffensen, John Fleng, Stevnsner, Tinna, Larsen, Knud

Volltext

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation von Gardella, Elena, Becker, Felicitas, Møller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Bakke Møller, Louise, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, Weber, Yvonne G.

Volltext

Utility of genetic testing for therapeutic decision‐making in adults with epilepsy von Johannesen, Katrine M., Nikanorova, Natalya, Marjanovic, Dragan, Pavbro, Agnieszka, Larsen, Line H. G., Rubboli, Guido, Møller, Rikke S.

Volltext

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies von Johannesen, Katrine, Marini, Carla, Pfeffer, Siona, Møller, Rikke S, Dorn, Thomas, Niturad, Christina, Gardella, Elena, Weber, Yvonne, Søndergård, Marianne, Hjalgrim, Helle, Nikanorova, Mariana, Becker, Felicitas, Larsen, Line H.G, Dahl, Hans A, Maier, Oliver, Mei, Davide, Biskup, Saskia, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Elias, Abdallah F, Hudson, Cindy, Helbig, Katherine L, Schubert-Bast, Susanne, Scordo, Maria R, Craiu, Dana, Djémié, Tania, Hoffman-Zacharska, Dorota, Caglayan, Hande, Helbig, Ingo, Serratosa, Jose, Striano, Pasquale, De Jonghe, Peter, Weckhuysen, Sarah, Suls, Arvid, Muru, Kai, Talvik, Inga, Talvik, Tiina, Muhle, Hiltrud, Borggraefe, Ingo, Rost, Imma, Guerrini, Renzo, Lerche, Holger, Lemke, Johannes R, Rubboli, Guido, Maljevic, Snezana

Volltext

Parental mosaicism in epilepsies due to alleged de novo variants von Møller, Rikke S., Liebmann, Nora, Larsen, Line H. G., Stiller, Mathias, Hentschel, Julia, Kako, Nahrain, Abdin, Dalia, Di Donato, Nataliya, Pal, Deb K., Zacher, Pia, Syrbe, Steffen, Dahl, Hans A., Lemke, Johannes R.

Volltext

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies von Møller, Rikke S, Wuttke, Thomas V, Helbig, Ingo, Marini, Carla, Johannesen, Katrine M, Brilstra, Eva H, Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L, Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T, Larsen, Line H.G, Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L, Dahl, Hans A, Tommerup, Niels, Mefford, Heather C, Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R, Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

Volltext

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy von Møller, Rikke S, Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E Martina, Hiatt, Susan M, Prokop, Jeremy W, Bowling, Kevin M, Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H G, Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M, Baulac, Stéphanie

Volltext

Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause von Resdal Dyssekilde, Johnni, Frederiksen, Tanja Charlotte, Christiansen, Morten Krogh, Hasle Sørensen, Rikke, Pedersen, Lisbeth Nørum, Loof Møller, Peter, Christensen, Lene Svendstrup, Larsen, Jacob Moesgaard, Thomsen, Kristian Korsgaard, Lindhardt, Tommi Bo, Böttcher, Morten, Molsted, Stig, Havndrup, Ole, Fischer, Thomas, Møller, Dorthe Svenstrup, Henriksen, Finn Lund, Johansen, Jens Brock, Nielsen, Jens Cosedis, Bundgaard, Henning, Nygaard, Mette, Jensen, Henrik Kjærulf

Volltext

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics von Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H. G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, Møller, Rikke S.

Volltext

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome von Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N

Volltext

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies von Møller, Rikke S., Larsen, Line H.G., Johannesen, Katrine M., Talvik, Inga, Talvik, Tiina, Vaher, Ulvi, Miranda, Maria J., Farooq, Muhammad, Nielsen, Jens E.K., Lavard Svendsen, Lene, Kjelgaard, Ditte B., Linnet, Karen M., Hao, Qin, Uldall, Peter, Frangu, Mimoza, Tommerup, Niels, Baig, Shahid M., Abdullah, Uzma, Born, Alfred P., Gellert, Pia, Nikanorova, Marina, Olofsson, Kern, Jepsen, Birgit, Marjanovic, Dragan, Al-Zehhawi, Lana I.K., Peñalva, Sofia J., Krag-Olsen, Bente, Brusgaard, Klaus, Hjalgrim, Helle, Rubboli, Guido, Pal, Deb K., Dahl, Hans A.

Volltext

Increments in DNA-thioguanine level during thiopurine-enhanced maintenance therapy of acute lymphoblastic leukemia von Larsen, Rikke Hebo, Utke Rank, Cecilie, Grell, Kathrine, Nørgaard Møller, Lisbeth, Malthe Overgaard, Ulrik, Kampmann, Peter, Nersting, Jacob, Degn, Matilda, Nygaard Nielsen, Stine, Holst, Helle, Klug Albertsen, Birgitte, Skov Wehner, Peder, Thude Callesen, Michael, Kanerva, Jukka, Leth Frandsen, Thomas, Als-Nielsen, Bodil, Lyngsie Hjalgrim, Lisa, Schmiegelow, Kjeld

Volltext

Incorporating epilepsy genetics into clinical practice: a 360°evaluation von Oates, Stephanie, Tang, Shan, Rosch, Richard, Lear, Rosalie, Hughes, Elaine F., Williams, Ruth E., Larsen, Line H. G., Hao, Qin, Dahl, Hans Atli, Møller, Rikke S., Pal, Deb K.

Volltext

Automatic continuous EEG signal analysis for diagnosis of delirium in patients with sepsis von Urdanibia-Centelles, Olalla, Nielsen, Rikke M., Rostrup, Egill, Vedel-Larsen, Esben, Thomsen, Kirsten, Nikolic, Miki, Johnsen, Birger, Møller, Kirsten, Lauritzen, Martin, Benedek, Krisztina

Volltext

Clinical Staphylococcus aureus inhibits human T-cell activity through interaction with the PD-1 receptor von Mellergaard, Maiken, Skovbakke, Sarah Line, Jepsen, Stine Dam, Panagiotopoulou, Nafsika, Hansen, Amalie Bøge Rud, Tian, Weihua, Lund, Astrid, Høgh, Rikke Illum, Møller, Sofie Hedlund, Guérillot, Romain, Hayes, Ashleigh S, Erikstrup, Lise Tornvig, Andresen, Lars, Peleg, Anton Y, Larsen, Anders Rhod, Stinear, Timothy P, Handberg, Aase, Erikstrup, Christian, Howden, Benjamin P, Goletz, Steffen, Frees, Dorte, Skov, Søren

Volltext

Mutations in KCNT1 cause a spectrum of focal epilepsies von Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.

Volltext

Exercise in newly diagnosed patients with multiple myeloma: A randomized controlled trial of effects on physical function, physical activity, lean body mass, bone mineral density,... von Larsen, Rikke F., Jarden, Mary, Minet, Lisbeth R., Frølund, Ulf Christian, Hermann, Anne Pernille, Breum, Leif, Möller, Sören, Abildgaard, Niels

Volltext

Sequence analysis of 17 NRXN1 deletions von Hoeffding, Louise Kristine Enggaard, Hansen, Thomas, Ingason, Andrés, Doung, Linh, Thygesen, Johan H., Møller, Rikke S., Tommerup, Niels, Kirov, George, Rujescu, Dan, Larsen, Lars A., Werge, Thomas

Volltext

Physical function in patients newly diagnosed with multiple myeloma; a Danish cohort study von Larsen, Rikke Faebo, Jarden, Mary, Minet, Lisbeth Rosenbek, Frølund, Ulf Christian, Möller, Sören, Abildgaard, Niels

Volltext

Symposium on "parental education" at the ICCH17 von Ingemann, Christine, Kvernmo, Siv, Møller, Helle, Moffitt, Pertice M., Tagalik, Shirley, Kuhn, Rikke L., Nilsen, Siv E., Rich, Rebecca, Larsen, Christina V. L.

Volltext