खोज परिणाम - Christina Fenger
- प्रदर्शित 1 - 13 परिणाम 13
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1
Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies—a Study in a Tertiary Epilepsy Center द्वारा Allan Bayat, Christina Fenger, Tanya Ramdal Techlo, Anne F. Højte, Ida Nørgaard, Thomas Hansen, Guido Rubboli, Rikke S. Møller
प्रकाशित 2022Artigo -
2
CD8+ T Cells Complement Antibodies in Protecting against Yellow Fever Virus द्वारा Maria Rosaria Bassi, Michael Kongsgaard, Maria Abildgaard Steffensen, Christina Fenger, Michael Rasmussen, Karsten Skjødt, Bente Finsen, Anette Stryhn, Søren Buus, Jan Pravsgaard Christensen, Allan Randrup Thomsen
प्रकाशित 2014Artigo -
3
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction द्वारा Peter Kovermann, Allan Bayat, Christina Fenger, Lisette Leeuwen, Artem Borovikov, Artem Sharkov, Virginie Levrat, Gaëtan Lesca, Laurence Perrin, Jonathan Lévy, Christoph Fahlke, Rikke S. Møller, Anders A. Jensen
प्रकाशित 2025Artigo -
4
Microglia Protect Neurons against Ischemia by Synthesis of Tumor Necrosis Factor द्वारा Kate Lykke Lambertsen, Bettina Hjelm Clausen, Alicia A. Babcock, Rikke Gregersen, Christina Fenger, Helle Hvilsted Nielsen, Laila Skov Haugaard, Martin Wirenfeldt, Marianne Nielsen, Frederik Dagnæs‐Hansen, Horst Bluethmann, Nils J. Færgeman, Michael Meldgaard, Tomas Deierborg, Bente Finsen
प्रकाशित 2009Artigo -
5
Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy द्वारा 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
प्रकाशित 2021Artigo -
6
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy द्वारा Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, Subhrajit Bhattacharya, Gaëtan Lesca, Sylvie Nguyen, Katherine L. Helbig, Jean‐Marie Cuisset, Christina Fenger, Dragan Marjanović, Elisabeth Schuler, Ye Wu, Xinhua Bao, Yuehua Zhang, Nina Dirkx, An‐Sofie Schoonjans, Steffen Syrbe, Scott J. Myers, Annapurna Poduri, Elias Aizenman, Stephen F. Traynelis, Johannes R. Lemke, Hongjie Yuan, Yuwu Jiang
प्रकाशित 2019Artigo -
7
Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function द्वारा Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller
प्रकाशित 2020Artigo -
8
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice द्वारा Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael Ghanty, Katrine M. Johannesen, Christina Fenger, Stéphanie Schorge, David Báez-Nieto, Hao‐Ran Wang, Andrew S. Allen, Jen Q. Pan, Holger Lerche, Henrike Heyne, Joseph D. Symonds, Sameer M. Zuberi, Stephan Sanders, Beth Rosen Sheidley, Dana Craiu, Heather E. Olson, Sarah Weckhuysen, Peter M. DeJonge, Ingo Helbig, Hilde Van Esch, Tiffany Busa, M. Milh, Bertrand Isidor, Christel Depienne, Annapurna Poduri, Arthur J. Campbell, Jordane Dimidschstein, Rikke S. Møller, Dennis Lal
प्रकाशित 2020Artigo -
9
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype द्वारा Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec‐Głąbik, Soroor Hediyeh-zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina Fenger, Charlotte Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas Hansen, Martin Faber Boxill, Boris Keren, Isabelle Marey, Margarita Sáenz, Kathleen Brown, Suzanne Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Bodén, Thomas H.J. Burne, Nathan J. Palpant, Rikke S. Møller, Sebastian Glatt, Brandon J. Wainwright
प्रकाशित 2021Artigo -
10
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy द्वारा Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller
प्रकाशित 2019Artigo -
11
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum द्वारा Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli
प्रकाशित 2021Artigo -
12
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns द्वारा Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer
प्रकाशित 2020Artigo -
13
Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications द्वारा Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne
प्रकाशित 2021Artigo
खोज साधन:
संबंधित विषय
Biology
Medicine
Gene
Genetics
Phenotype
Epilepsy
Internal medicine
Neuroscience
Psychiatry
Psychology
Chemistry
Encephalopathy
Immunology
Mutation
Antibody
Biochemistry
Bioinformatics
Cell biology
Childhood absence epilepsy
Clinical Practice
Clinical significance
Complement (music)
Complementation
Computational biology
Electroencephalography
Epilepsy syndromes
Family medicine
Function (biology)
Gain of function
Genetic testing