Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study von Acsadi, Gyula, Crawford, Thomas O., Müller‐Felber, Wolfgang, Shieh, Perry B., Richardson, Randal, Natarajan, Niranjana, Castro, Diana, Ramirez‐Schrempp, Daniela, Gambino, Giulia, Sun, Peng, Farwell, Wildon

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Newborn infant screening for spinal muscular atrophy: Chances and challenges von Mueller‐Felber, Wolfgang

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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years von Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Glaeser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Roeschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jurgen, Eggermann, Katja, Olgemoeller, Bernhard, Harms, Erik, Schara, Ulrike, Koelbel, Heike, Mueller-Felber, Wolfgang

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Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients von Vill, Katharina, Müller‐Felber, Wolfgang, Landfarth, Timotheus, Köppl, Christian, Herzig, Nadine, Knerr, Christine, Holla, Heike, Steidle, Günther, Harms, Erik, Hohenfellner, Katharina

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Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte von Shieh, Perry B., Bonnemann, Carsten G., Mueller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.

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Myositis: from diagnosis to treatment von Schmidt, Jens, Müller-Felber, Wolfgang

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A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation von Vill, Katharina, Müller‐Felber, Wolfgang, Alhaddad, Bader, Strom, Tim M., Teusch, Veronika, Weigand, Heike, Blaschek, Astrid, Meitinger, Thomas, Haack, Tobias B.

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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR von Czibere, Ludwig, Burggraf, Siegfried, Fleige, Tobias, Glueck, Birgit, Keitel, Lisa Marie, Landt, Olfert, Durner, Juergen, Roeschinger, Wulf, Hohenfellner, Katharina, Wirth, Brunhilde, Mueller-Felber, Wolfgang, Vill, Katharina, Becker, Marc

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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy von Regnery, Caroline, Kornblum, Cornelia, Hanisch, Frank, Vielhaber, Stefan, Strigl-Pill, Nicola, Grunert, Birgit, Müller-Felber, Wolfgang, Glocker, Franz Xaver, Spranger, Matthias, Deschauer, Marcus, Mengel, Eugen, Schoser, Benedikt

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood von Michot, Caroline, Hubert, Laurence, Brivet, Michèle, De Meirleir, Linda, Valayannopoulos, Vassili, Müller-Felber, Wolfgang, Venkateswaran, Ramesh, Ogier, Hélène, Desguerre, Isabelle, Altuzarra, Cécilia, Thompson, Elizabeth, Smitka, Martin, Huebner, Angela, Husson, Marie, Horvath, Rita, Chinnery, Patrick, Vaz, Frederic M, Munnich, Arnold, Elpeleg, Orly, Delahodde, Agnès, de Keyzer, Yves, de Lonlay, Pascale

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Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening von Trollmann, Regina, Johannsen, Jessika, Vill, Katharina, Köhler, Cornelia, Hahn, Andreas, Illsinger, Sabine, Pechmann, Astrid, Hagen, Maja von der, Müller-Felber, Wolfgang

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia von Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood von Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger

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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK von Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S, Lochmüller, Hanns, Abicht, Angela

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One Year of Newborn Screening for SMA – Results of a German Pilot Project von Vill, Katharina, Kölbel, Heike, Schwartz, Oliver, Blaschek, Astrid, Olgemöller, Bernhard, Harms, Erik, Burggraf, Siegfried, Röschinger, Wulf, Durner, Jürgen, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Schara, Ulrike, Jensen, Beate, Becker, Marc, Hohenfellner, Katharina, Müller-Felber, Wolfgang

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Muscle biopsy substantiates long-term MRI alterations one year after a single dose of botulinum toxin injected into the lateral gastrocnemius muscle of healthy volunteers von Schroeder, A. Sebastian, Ertl-Wagner, Birgit, Britsch, Stefanie, Schröder, J. Michael, Nikolin, Stefan, Weis, Joachim, Müller-Felber, Wolfgang, Koerte, Inga, Stehr, Maximilian, Berweck, Steffen, Borggraefe, Ingo, Heinen, Florian

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Learning an Infant Body Model from RGB-D Data for Accurate Full Body Motion Analysis von Hesse, Nikolas, Pujades, Sergi, Romero, Javier, Black, Michael J., Bodensteiner, Christoph, Arens, Michael, Hofmann, Ulrich G., Tacke, Uta, Hadders-Algra, Mijna, Weinberger, Raphael, Müller-Felber, Wolfgang, Sebastian Schroeder, A.

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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial von Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador

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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness von Lukacs, Zoltan, Nieves Cobos, Paulina, Wenninger, Stephan, Willis, Tracey A, Guglieri, Michela, Roberts, Marc, Quinlivan, Rosaline, Hilton-Jones, David, Evangelista, Teresinha, Zierz, Stephan, Schlotter-Weigel, Beate, Walter, Maggie C, Reilich, Peter, Klopstock, Thomas, Deschauer, Marcus, Straub, Volker, Müller-Felber, Wolfgang, Schoser, Benedikt

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Performance Evaluation of Adaptive Tracking Techniques with Direct-State Kalman Filter von Cortés, Iñigo, van der Merwe, Johannes Rossouw, Lohan, Elena Simona, Nurmi, Jari, Felber, Wolfgang

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