Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report von Hiebeler, Miriam, Thiele, Simone, Walter, Maggie C

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Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany von Hiebeler, Miriam, Thiele, Simone, Reilich, Peter, Bernert, Günther, Walter, Maggie C.

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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study von Walter, Maggie C., Wenninger, Stephan, Thiele, Simone, Stauber, Julia, Hiebeler, Miriam, Greckl, Eva, Stahl, Kristina, Pechmann, Astrid, Lochmüller, Hanns, Kirschner, Janbernd, Schoser, Benedikt

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Cost of illness in inclusion body myositis: results from a cross-sectional study in Germany von Senn, Katja C, Thiele, Simone, Kummer, Karsten, Walter, Maggie C, Nagels, Klaus H

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Inclusion body myositis—health-related quality of life and care situation during phases of the “patience journey” in Germany: results from a qualitative study von Senn, Katja C, Thiele, Simone, Gumbert, Laura, Krause, Sabine, Walter, Maggie C, Nagels, Klaus H

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The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review von Senn, Katja C, Gumbert, Laura, Thiele, Simone, Krause, Sabine, Walter, Maggie C, Nagels, Klaus H

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Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany von Leibrock, Berenike, Landfeldt, Erik, Hussong, Justine, Huelle, Tabea, Mattheus, Hannah, Thiele, Simone, Walter, Maggie C, Zemlin, Michael, Moehler, Eva, Dillman, Ullrich, Abner, Sophia, Flotats-Bastardas, Marina

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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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Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany von Schreiber-Katz, Olivia, Klug, Constanze, Thiele, Simone, Schorling, Elisabeth, Zowe, Janet, Reilich, Peter, Nagels, Klaus H, Walter, Maggie C

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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease von Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Manera, Jorge Alberto Diaz, Dogan, Celine, El Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P, Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns

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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9 von Murphy, Lindsay B., Schreiber‐Katz, Olivia, Rafferty, Karen, Robertson, Agata, Topf, Ana, Willis, Tracey A., Heidemann, Marcel, Thiele, Simone, Bindoff, Laurence, Laurent, Jean‐Pierre, Lochmüller, Hanns, Mathews, Katherine, Mitchell, Claudia, Stevenson, John Herbert, Vissing, John, Woods, Lacey, Walter, Maggie C., Straub, Volker

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Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease von Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, El Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P, Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns

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Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany von Landfeldt, Erik, Leibrock, Berenike, Hussong, Justine, Thiele, Simone, Walter, Maggie C., Moehler, Eva, Zemlin, Michael, Dillmann, Ulrich, Flotats-Bastardas, Marina

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Disease burden of spinal muscular atrophy in Germany von Klug, Constanze, Schreiber-Katz, Olivia, Thiele, Simone, Schorling, Elisabeth, Zowe, Janet, Reilich, Peter, Walter, Maggie C, Nagels, Klaus H

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Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders von Wenninger, Stephan, Stahl, Kristina, Wirner, Corinna, Einvag, Krisztina, Thiele, Simone, Walter, Maggie C., Schoser, Benedikt

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Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany von Schorling, Elisabeth, Thiele, Simone, Gumbert, Laura, Krause, Sabine, Klug, Constanze, Schreiber-Katz, Olivia, Reilich, Peter, Nagels, Klaus, Walter, Maggie C

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Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale von Jacobs, Marni B., James, Meredoith K., Lowes, Linda P., Alfano, Lindsay N., Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa‐Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sanchez‐Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean‐Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Díaz‐Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Mayhew, Anna G., Straub, Volker

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Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients’ perspective von Janisch, Maria, Boehme, Kristin, Thiele, Simone, Bock, Annette, Kirschner, Janbernd, Schara, Ulrike, Walter, Maggie C., Nolte-Buchholtz, Silke, von der Hagen, Maja

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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features von Iruzubieta, Pablo, Damborenea, Alberto, Ioghen, Mihaela, Bajew, Simon, Fernandez-Torrón, Roberto, Töpf, Ana, Herrero-Reiriz, Álvaro, Epure, Diana, Vill, Katharina, Hernández-Laín, Aurelio, Manterola, María, Azkargorta, Mikel, Pikatza-Menoio, Oihane, Pérez-Fernandez, Laura, García-Puga, Mikel, Gaina, Gisela, Bastian, Alexandra, Streata, Ioana, Walter, Maggie C, Müller-Felber, Wolfgang, Thiele, Simone, Moragón, Saioa, Bastida-Lertxundi, Nerea, López-Cortajarena, Aitziber, Elortza, Felix, Gereñu, Gorka, Alonso-Martin, Sonia, Straub, Volker, de Sancho, David, Teleanu, Raluca, López de Munain, Adolfo, Blázquez, Lorea

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Long-term whole-body vibration training in two late-onset Pompe disease patients von Montagnese, Federica, Thiele, Simone, Wenninger, Stephan, Schoser, Benedikt

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