תוצאות חיפוש - Hackenberg, Annette

Case report: narcolepsy type 1 in an adolescent with HIV infection—coincidence or potential trigger? מאת Scherrer, Karin Sofia, Relly, Christa, Hackenberg, Annette, Berger, Christoph, Paioni, Paolo

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Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Im... מאת Kivrak Pfiffner, Fatma, Koller, Samuel, Ménétrey, Anika, Graf, Urs, Bähr, Luzy, Maspoli, Alessandro, Hackenberg, Annette, Kottke, Raimund, Gerth-Kahlert, Christina, Berger, Wolfgang

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes מאת Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study מאת Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

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Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients מאת Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, Rostásy, Kevin

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Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 מאת Neilson, Derek E., Adams, Mark D., Orr, Caitlin M.D., Schelling, Deborah K., Eiben, Robert M., Kerr, Douglas S., Anderson, Jane, Bassuk, Alexander G., Bye, Ann M., Childs, Anne-Marie, Clarke, Antonia, Crow, Yanick J., Di Rocco, Maja, Dohna-Schwake, Christian, Dueckers, Gregor, Fasano, Alfonso E., Gika, Artemis D., Gionnis, Dimitris, Gorman, Mark P., Grattan-Smith, Padraic J., Hackenberg, Annette, Kuster, Alice, Lentschig, Markus G., Lopez-Laso, Eduardo, Marco, Elysa J., Mastroyianni, Sotiria, Perrier, Julie, Schmitt-Mechelke, Thomas, Servidei, Serenella, Skardoutsou, Angeliki, Uldall, Peter, van der Knaap, Marjo S., Goglin, Karrie C., Tefft, David L., Aubin, Cristin, de Jager, Philip, Hafler, David, Warman, Matthew L.

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Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study מאת van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Monti Lora, Felipe, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Hans, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward

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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study מאת Groeneweg, Stefan, van Geest, Ferdy S, Abaci, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem, Armour, Christine, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castaglioni, Claudia, Castellotti, Barbara, Chatterjee, Krishna, de Coo, Irenaeus FM, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein HG, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Lorea, Cláudia Fernandes, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Koolen, David, Konrad, Daniel, Krude, Heiko, Lawson–Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, Lourenço, Charles Marques, McGowan, Anne, Mericq, Veronica, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, de Oliveira Poswar, Fabiano, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba Seven, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou AM, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward

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Monogenic variants in dystonia: an exome-wide sequencing study מאת Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V., Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H., Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A., Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S., Riedhammer, Korbinian M., Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M., Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E., Millan Zamora, Francisca, Henderson, Lindsay B., Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M., Ozelius, Laurie J., Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B., Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D., Dyment, David, Chung, Wendy K., Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane

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