Zoekresultaten - Kaja Kristine Selmer
- Toon 1 - 20 resultaten van 20
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Pharmacokinetic interaction between modified Atkins diet and antiepileptic drugs in adults with drug‐resistant epilepsy door Magnhild Kverneland, Erik Taubøll, Ellen Molteberg, Marit B. Veierød, Kaja Kristine Selmer, Karl O. Nakken, Per Ole Iversen
Gepubliceerd in 2019Artigo -
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Good outcome in patients with early dietary treatment of <scp>GLUT</scp>‐1 deficiency syndrome: results from a retrospective Norwegian study door Anette Ramm‐Pettersen, Karl O. Nakken, Inger Marie Skogseid, Hans Randby, Erik Borge Skei, Laurence A. Bindoff, Kaja Kristine Selmer
Gepubliceerd in 2013Artigo -
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Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions door Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence A. Bindoff, Chantal Tallaksen, Charalampos Tzoulis
Gepubliceerd in 2014Artigo -
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A novel somatic mutation in<i>GNB2</i>provides new insights to the pathogenesis of Sturge–Weber syndrome door Roar Fjær, Katarzyna Marciniak, Olav Sundnes, Hanne Sagsveen Hjorthaug, Ying Sheng, Clara Hammarström, Jan Cezary Sitek, Magnus Dehli Vigeland, Paul Hoff Backe, Ane-Marte Øye, Johanna Hol Fosse, Tor Espen Stav-Noraas, Yuri Uchiyama, Naomichi Matsumoto, Anne M. Comi, Jonathan Pevsner, Guttorm Haraldsen, Kaja Kristine Selmer
Gepubliceerd in 2021Artigo -
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Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy door Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja Kristine Selmer, Barbro Stadheim, H. W. C. DAVIS, Charlotte Peinhardt, Mahmoud Koko, Rohini Coorg, Steffen Syrbe, Astrid Bertsche, Teresa Santiago‐Sim, Tue Diemer, Christina Fenger, Konrad Platzer, Evan E. Eichler, Holger Lerche, Johannes R. Lemke, Mary Chebib, Rikke S. Møller
Gepubliceerd in 2021Artigo -
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features door Karen Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David Fitzpatrick, Mark Greenslade, Alex Henderson, Jane A. Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja Kristine Selmer, Michael C. Schneider, Fiona Stewart, Katrina Tatton‐Brown, Julien Thévenon, Magnus Dehli Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D.D.D. Study, Sarah Smithson
Gepubliceerd in 2017Artigo -
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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome door Gregor D. Gilfillan, Kaja Kristine Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjöholm, Andrés Server, Lena Samuelsson, Arnold L. Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon W. Teague, Sarah Edkins, Jozef Gécz, Gillian Turner, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Strømme
Gepubliceerd in 2008Artigo -
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Sex-specific disease modifiers in juvenile myoclonic epilepsy door Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Elena Gardella, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Rikke S. Møller, Ching Ching Ng, Alessandro Orsini, Mark I. Rees, Guido Rubboli, Kaja Kristine Selmer, Pasquale Striano, Marte Syvertsen, Rhys H. Thomas, Jana Zárubová, Mark P. Richardson, Lisa J. Strug, Deb K. Pal
Gepubliceerd in 2022Artigo -
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Microbiota-gut brain axis involvement in neuropsychiatric disorders door Luigi Francesco Iannone, Alberto Preda, Hervé M. Blottière, Gerard Clarke, Diego Albani, Vincenzo Belcastro, Marco Carotenuto, Annamaria Cattaneo, Rita Citraro, Cinzia Ferraris, Francesca Ronchi, Gaia Luongo, Elisa Santocchi, Letizia Guiducci, Pietro Baldelli, Paola Iannetti, Sigrid Pedersen, Andrea Petretto, Stefania Provasi, Kaja Kristine Selmer, Alberto Spalice, Anna Tagliabue, Alberto Verrotti, Nicola Segata, Jakob Zimmermann, Carlo Minetti, P. Mainardi, Carmen Giordano, Sanjay M. Sisodiya, Federico Zara, Emilio Russo, Pasquale Striano
Gepubliceerd in 2019Revisão -
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies door Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. 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
Gepubliceerd in 2018Artigo -
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<i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures door Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, 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, Manuela Pendziwiat, 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, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber
Gepubliceerd in 2015Artigo -
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Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual parti... door Remi Stevelink, Dania Al‐Toma, Floor E. Jansen, Herm J. Lamberink, Ali A. Asadi‐Pooya, Mohsen Farazdaghi, Gonçalo Cação, Sita Jayalakshmi, Anuja Patil, Çiğdem Özkara, Şenay Aydın, Joanna Gesche, Christoph P. Beier, Linda J. Stephen, Martin J. Brodie, Gopeekrishnan Unnithan, Ashalatha Radhakrishnan, Julia Höfler, Eugen Trinka, Roland Krause, Emanuele Cerulli Irelli, Carlo Di Bonaventura, Jerzy P. Szaflarski, Laura E. Hernández‐Vanegas, Monica L. Moya-Alfaro, Yingying Zhang, Dong Zhou, Nicola Pietrafusa, Nicola Specchio, Giorgi Japaridze, Sándor Beniczky, Mubeen Janmohamed, Patrick Kwan, Marte Syvertsen, Kaja Kristine Selmer, Bernd J. Vorderwülbecke, Martin Holtkamp, Lakshminarayanapuram Gopal Viswanathan, Sanjib Sinha, Betül Baykan, Ebru Altındağ, Felix von Podewils, Juliane Schulz, Udaya Seneviratne, Alejandro Viloria‐Alebesque, Ioannis Karakis, Wendyl D’Souza, Josemir W. Sander, Bobby P.C. Koeleman, Willem M. Otte, Kees P. J. Braun
Gepubliceerd in 2022Revisão -
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome door Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, Yvonne G. Weber, Sarah Weckhuysen, Dana Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande Çağlayan, Beatriz G. Giráldez, José M. Serratosa, Johannes R. Lemke, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Nina Barišić, Vladimı́r Komárek, Helle Hjalgrim, Rikke S. Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D. Crawford, Anna‐Elina Lehesjoki, Peter de Witte, Aarno Palotie, Holger Lerche, Camila V. Esguerra, Peter De Jonghe, Ingo Helbig, Rik Hendrickx, Philip Holmgren, Ulrich Stephani, Hiltrud Muhle, Manuela Pendiziwiat, Silke Appenzeller, Kaja Kristine Selmer, Eva H. Brilstra, Bobby P.C. Koeleman, Felix Rosenow, Eric LeGuern, Katalin Štěrbová, Budisteanu Magdalena, Gherghiceanu Rodica, Oana Tarta Arsene, Barca Diana, Rosa Guerrero, Laura Ortega, Албена Тодорова, Andrey Kirov, Angela Robbiano, Mutluay Arslan, Uluç Yiş, Vanja Ivanović
Gepubliceerd in 2013Artigo -
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder door Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Gepubliceerd in 2021Artigo -
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The phenotypic spectrum of <i>SCN8A</i> encephalopathy door 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 G. Weber
Gepubliceerd in 2015Artigo -
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy door Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A. Ellis, Nadja Hümpfer, Niklas Schwarz, Simone Seiffert, Joseph Peeden, Joseph Shen, Katalin Štěrbová, Trine Bjørg Hammer, Rikke S. Møller, Deepali N. Shinde, Sha Tang, Lacey Smith, Annapurna Poduri, Roland Krause, Felix Benninger, Katherine L. Helbig, Volker Haucke, Yvonne G. Weber, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Vladimı́r Komárek, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Hiltrud Muhle, Deb K. Pal, Aarno Palotie, Felix Rosenow, Susanne Schubert‐Bast, Kaja Kristine Selmer, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Sarah Weckhuysen, Federico Zara, Paul Avillach, Anna Bartels, Sawona Biswas, Florence T. Bourgeois, Batsal Devkota, Tracy A. Glauser, Barbara Hallinan, Allison P. Heath, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Ian D. Krantz, In‐Hee Lee, Kenneth D. Mandl, Eric D. Marsh, Kristen L. Sund, Deanne Taylor, Peter S. White
Gepubliceerd in 2019Artigo -
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 door Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon
Gepubliceerd in 2020Artigo
Zoekinstrumenten:
Gerelateerde Onderwerpen
Biology
Genetics
Medicine
Gene
Epilepsy
Psychiatry
Internal medicine
Mutation
Phenotype
Missense mutation
Pediatrics
Encephalopathy
Neuroscience
Bioinformatics
Disease
Microcephaly
Myoclonic epilepsy
Ataxia
Cell biology
Dravet syndrome
Drug Resistant Epilepsy
Exome sequencing
Germline mutation
Immunology
Juvenile
Juvenile myoclonic epilepsy
Ketogenic diet
Pathology
Psychology
Sanger sequencing