Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care von Schorling, David C., Pechmann, Astrid, Kirschner, Janbernd

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SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy von Pechmann, Astrid, König, Kirsten, Bernert, Günther, Schachtrup, Kristina, Schara, Ulrike, Schorling, David, Schwersenz, Inge, Stein, Sabine, Tassoni, Adrian, Vogt, Sibylle, Walter, Maggie C, Lochmüller, Hanns, Kirschner, Janbernd

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder von Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan

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Post‐dural puncture headache—a single‐centre analysis in paediatric patients with and without SMA von Schorling, David C., Pechmann, Astrid, Eckenweiler, Matthias, Müller, Cornelia K., Langer, Thorsten, Kirschner, Janbernd

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De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany von König, Kirsten, Pechmann, Astrid, Thiele, Simone, Walter, Maggie C, Schorling, David, Tassoni, Adrian, Lochmüller, Hanns, Müller-Reible, Clemens, Kirschner, Janbernd

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG von Schorling, David C, Rost, Simone, Lefeber, Dirk J, Brady, Lauren, Müller, Clemens R, Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G, Rodenburg, Richard J, Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan

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Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey von Schorling, David C., Müller, Cornelia K., Pechmann, Astrid, Borell, Sabine, Langer, Thorsten, Thiele, Simone, Walter, Maggie C., Zieger, Barbara, Kirschner, Janbernd

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Discrepancy in redetermination of SMN2 copy numbers in children with SMA von Schorling, David Christof, Becker, Jutta, Pechmann, Astrid, Langer, Thorsten, Wirth, Brunhilde, Kirschner, Janbernd

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Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA von Kirschner, Janbernd, Becker, Jutta, Schorling, David, Pechmann, Astrid, Wirth, Brunhilde

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Mechanographic analysis of the timed 4 stair climb test - methodology and reference data of healthy children and adolescents von Schorling, David C, Rawer, Rainer, Kuhlmann, Imke, Müller, Cornelia, Pechmann, Astrid, Kirschner, Janbernd

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De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure von Pechmann, Astrid, Eckenweiler, Matthias, Schorling, David, Stavropoulou, Dimitra, Lochmüller, Hanns, Kirschner, Janbernd

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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy von Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Schwersenz, Inge, Walter, Maggie C, Baumann, Matthias, Baumgartner, Manuela, Deschauer, Marcus, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Hahn, Andreas, Horber, Veronka, Husain, Ralf A, Illsinger, Sabine, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Vill, Katharina, Weiß, Claudia, Wiegand, Gert, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd

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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy von Schorling, David, Kölbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, SMArtCARE consortium, Sickmann, Albert, Kirschner, Janbernd, Schara-Schmidt, Ulrike, Lochmüller, Hanns, Roos, Andreas

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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany von Pechmann, Astrid, Langer, Thorsten, Schorling, David, Stein, Sabine, Vogt, Sibylle, Schara, Ulrike, Kölbel, Heike, Schwartz, Oliver, Hahn, Andreas, Giese, Kerstin, Johannsen, Jessika, Denecke, Jonas, Weiß, Claudia, Theophil, Manuela, Kirschner, Janbernd

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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase von Neto, Osorio Lopes Abath, Medne, Livija, Donkervoort, Sandra, Elena Rodriguez-Garcia, Maria, Bolduc, Veronique, Hu, Ying, Guadagnin, Eleonora, Foley, A. Reghan, Brandsema, John F., Glanzman, Allan M., Tennekoon, Gihan, Santi, Mariarita, Berger, Justin H., Megeney, Lynn A., Komaki, Hirofumi, Inoue, Michio, Javier Cotrina-Vinagre, Francisco, Hernandez-Lain, Aurelio, Martin-Hernandez, Elena, Williams, Linford, Borell, Sabine, Schorling, David, Lin, Kimberly, Kolokotronis, Konstantinos, Lichter-Konecki, Uta, Kirschner, Janbernd, Nishino, Ichizo, Banwell, Brenda, Martinez-Azorin, Francisco, Burgon, Patrick G., Bonnemann, Carsten G.

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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy von Kölbel, Heike, Pechmann, Astrid, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Lochmüller, Hanns, Roos, Andreas, Andres, Barbara, Baum, Tobias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Geitmann, Stephanie, Goldhahn, Klaus, Grosskreutz, Julian, Guillemot, Helene, Günther, René, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holzwarth, Dorothea, Horber, Veronka, Jansen, Eva, Kaindl, Angela, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Lehnert, Ilka, Lingor, Paul, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Odorfer, Thorsten, Pauschek, Josefine, Pickrodt, Katrin, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Rödiger, Annekathrin, Saffari, Afshin, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwersenz, Inge, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Thiele, Simone, Topakian, Raffi, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiss, Deike, Weiss, Simone, Wiebe, Nils, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, Ziegler, Andreas

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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study von Tassoni, Adrian, Wenzel, Franziska, Vogt, Sibylle, Zöller, Daniela, Hagenacker, Tim, Schara-Schmidt, Ulrike, Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Hahn, Andreas, Horber, Veronka, Jahnel, Jörg, von Moers, Arpad, Schreiber, Gudrun, Schwartz, Oliver, Weiss, Claudia, Ziegler, Andreas, Lochmüller, Hanns, Ameshofer, Lisa, Andres, Barbara, Banholzer, Daniela, Bant, Christina, Baum, Petra, Bellut, Julia, Bevot, Andrea, Bischofberger, Jasmin, Bitzan, Lisa, Bjelica, Bogdan, Blankenburg, Markus, Bonetti, Friederike, Bongartz, Anke, Brakemeier, Svenja, Bratka, Lisa, Braun, Sarah, Bretschneider, Christa, Burke, Bea, de Vries, Heike, Denecke, Jonas, Dibrani, Zylfie, Drebes, Jessica, Fischer, Michal, Fischer, Cornelia, Freigang, Maren, Gosk-Tomek, Magdalena, Gross, Martin, Hiebeler, Miriam, Horneff, Viola, Hubert, Andrea, Jansen, Eva, Kappel, Stefan, Katharina, Bolte, Kölke, Stefan, Kostede, Franziska, Küpper, Hanna, Lehmann, Helmar, Leypold, Christine, Lingor, Paul, Lipka, Jaqueline, Malm, Eva, Müller, Petra, Müller, Anne, Neuwirth, Christoph, Niesert, Moritz, Pauschek, Josefine, Pernegger, Elke, Pilshofer, Veronika, Plecko, Barbara, Preisel, Martin, Pühringer, Manuel, Quinten, Anna Lisa, Reckmann, Kerstin, Roland-Schäfer, Doris, Roth, Erdmute, Saffari, Afshin, Schlag, Melina, Schreiner, Isabella, Semmler, Luisa, Smuda, Karin, Sprenger-Svacina, Alina, Stadler, Theresa, Steuernagel, Daniela, Tasch, Gehrke, Thimm, Andreas, Tiefenthaler, Elke, Türk, Matthias, van der Stam, Lieske, Vollmann, Peter, Vorgerd, Matthias, Weiss, Deike, Wenninger, Stephan, Werring, Svea, Wessel, Maria, Weyen, Ute, Wider, Sabine, Wiesenhofer, Anna, Wiethoff, Sarah, Wunderlich, Gilbert, Zeller, Daniel, Zemlin, Michael, Zobel, Joachim

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De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany von König, Kirsten, Pechmann, Astrid, Thiele, Simone, Walter, Maggie C, Schorling, David, Tassoni, Adrian, Lochmüller, Hanns, Müller-Reible, Clemens, Kirschner, Janbernd

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Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study von Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new von Schorling, David C., Rost, Simone, Lefeber, Dirk J., Brady, Lauren, Müller, Clemens R., Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G., Rodenburg, Richard J., Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan

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