Case report: Rapid improvements of anorexia nervosa and probable myalgic encephalomyelitis/chronic fatigue syndrome upon metreleptin treatment during two dosing episodes von Hebebrand, Johannes, Antel, Jochen, von Piechowski, Linda, Kiewert, Cordula, Stüve, Burkhard, Gradl-Dietsch, Gertraud

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Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy von Hallmann, Kerstin, Kudin, Alexei P, Zsurka, Gábor, Kornblum, Cornelia, Reimann, Jens, Stüve, Burkhard, Waltz, Stephan, Hattingen, Elke, Thiele, Holger, Nürnberg, Peter, Rüb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald, Kunz, Wolfram S

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Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia von Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Körber, Friederike, Stüve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline, Maarouf, Mohammad, Coubes, Philippe, Cif, Laura

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A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity von Zhang, Peng, Cobat, Aurélie, Lee, Yoon-Seung, Wu, Yiming, Bayrak, Cigdem Sevim, Boccon-Gibod, Clémentine, Matuozzo, Daniela, Lorenzo, Lazaro, Jain, Aayushee, Boucherit, Soraya, Vallée, Louis, Stüve, Burkhard, Chabrier, Stéphane, Casanova, Jean-Laurent, Abel, Laurent, Zhang, Shen-Ying, Itan, Yuval

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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease von Gangfuß, Andrea, Hentschel, Andreas, Rademacher, Nina, Sickmann, Albert, Stüve, Burkhard, Horvath, Rita, Gross, Claudia, Kohlschmidt, Nicolai, Förster, Fabian, Abicht, Angela, Schänzer, Anne, Schara‐Schmidt, Ulrike, Roos, Andreas, Della Marina, Adela

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Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy von Zaum, Ann-Kathrin, Stüve, Burkhard, Gehrig, Andrea, Kölbel, Heike, Schara, Ulrike, Kreß, Wolfram, Rost, Simone

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Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1 von Pechmann, Astrid, Baumann, Matthias, Bernert, Günther, Flotats-Bastardas, Marina, Gruber-Sedlmayr, Ursula, von der Hagen, Maja, Hasselmann, Oswald, Hobbiebrunken, Elke, Horber, Veronka, Johannsen, Jessika, Kellersmann, Anna, Köhler, Cornelia, von Moers, Arpad, Müller-Felber, Wolfgang, Plecko, Barbara, Reihle, Christof, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Stoltenburg, Corinna, Stüve, Burkhard, Theophil, Manuela, Weiß, Claudia, Wiegand, Gert, Wilichowski, Ekkehard, Winter, Benedikt, Wittmann, Wolfgang, Schara, Ulrike, Kirschner, Janbernd

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Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration von Belohlavkova, Anezka, Sterbova, Katalin, Betzler, Cornelia, Burkhard, Stuve, Panzer, Axel, Wolff, Markus, Lassuthova, Petra, Vlckova, Marketa, Kyncl, Martin, Benova, Barbora, Jahodova, Alena, Kudr, Martin, Goerg, Maria, Dusek, Petr, Seeman, Pavel, Kluger, Gerhard, Krsek, Pavel

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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease von Gangfuß, Andrea, Hentschel, Andreas, Rademacher, Nina, Sickmann, Albert, Stüve, Burkhard, Horvath, Rita, Gross, Claudia, Kohlschmidt, Nicolai, Förster, Fabian, Abicht, Angela, Schänzer, Anne, Schara-Schmidt, Ulrike, Roos, Andreas, Della Marina, Adela

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Case report: Rapid improvements of anorexia nervosa and probable myalgic encephalomyelitis/chronic fatigue syndrome upon metreleptin treatment during two dosing episodes von Hebebrand, Johannes, Antel, Jochen, von Piechowski, Linda, Kiewert, Cordula, Stüve, Burkhard, Gradl-Dietsch, Gertraud

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Spinal cord involvement in multiple sclerosis and neuromyelitis optica spectrum disorders von Ciccarelli, Olga, Cohen, Jeffrey A, Reingold, Stephen C, Weinshenker, Brian G, Amato, Maria Pia, Banwell, Brenda, Barkhof, Frederik, Bebo, Bruce, Becher, Burkhard, Bethoux, François, Brandt, Alexander, Brownlee, Wallace, Calabresi, Peter, Chatway, Jeremy, Chien, Claudia, Chitnis, Tanuja, Ciccarelli, Olga, Cohen, Jeffrey, Comi, Giancarlo, Correale, Jorge, De Sèze, Jerome, De Stefano, Nicola, Fazekas, Franz, Flanagan, Eoin, Freedman, Mark, Fujihara, Kazuo, Galetta, Steven, Goldman, Myla, Greenberg, Benjamin, Hartung, Hans-Peter, Hemmer, Bernhard, Henning, Anke, Izbudak, Izlem, Kappos, Ludwig, Lassmann, Hans, Laule, Cornelia, Levy, Michael, Lublin, Fred, Lucchinetti, Claudia, Lukas, Carsten, Marrie, Ruth Ann, Miller, Aaron, Miller, David, Montalban, Xavier, Mowry, Ellen, Ourselin, Sebastien, Paul, Friedemann, Pelletier, Daniel, Ranjeva, Jean-Philippe, Reich, Daniel, Reingold, Stephen, Rocca, Maria Assunta, Rovira, Alex, Schlaerger, Regina, Soelberg Sorensen, Per, Sormani, Maria, Stuve, Olaf, Thompson, Alan, Tintoré, Mar, Traboulsee, Anthony, Trapp, Bruce, Trojano, Maria, Uitdehaag, Bernard, Vukusic, Sandra, Waubant, Emmanuelle, Weinshenker, Brian, Wheeler-Kingshott, Claudia Gandini, Xu, Junqian

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