Ngā hua rapu - Kirschner, Janbernd

Gene Therapy for Monogenic Inherited Disorders: Opportunities and Challenges mā Kirschner, Janbernd, Cathomen, Toni

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

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Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study mā Kiefer, Petra, Kirschner, Janbernd, Pechmann, Astrid, Langer, Thorsten

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Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives mā DE LOS ANGELES BEYTÍA, MARIA, VRY, JULIA, KIRSCHNER, JANBERND

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Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study mā Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara

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Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis mā Landfeldt, Erik, Thompson, Rachel, Sejersen, Thomas, McMillan, Hugh J., Kirschner, Janbernd, Lochmüller, Hanns

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Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy mā Venhoff, Nils, Lebrecht, Dirk, Pfeifer, Dietmar, Venhoff, Ana C, Bissé, Emmanuel, Kirschner, Janbernd, Walker, Ulrich A

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Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review mā Landfeldt, Erik, Edström, Josefin, Jimenez-Moreno, Cecilia, van Engelen, Baziel G. M., Kirschner, Janbernd, Lochmüller, Hanns

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Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre Experience mā Friese, Johannes, Geitmann, Stephanie, Holzwarth, Dorothea, Müller, Nicole, Sassen, Robert, Baur, Ute, Adler, Kristin, Kirschner, Janbernd

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The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases mā Rodger, Sunil, Lochmüller, Hanns, Tassoni, Adrian, Gramsch, Kathrin, König, Kirsten, Bushby, Kate, Straub, Volker, Korinthenberg, Rudolf, Kirschner, Janbernd

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

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Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey mā 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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Adult care for Duchenne muscular dystrophy in the UK mā Rodger, Sunil, Woods, Katherine L., Bladen, Catherine L., Stringer, Angela, Vry, Julia, Gramsch, Kathrin, Kirschner, Janbernd, Thompson, Rachel, Bushby, Katharine, Lochmüller, Hanns

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A multi-source approach to determine SMA incidence and research ready population mā Verhaart, Ingrid E. C., Robertson, Agata, Leary, Rebecca, McMacken, Grace, König, Kirsten, Kirschner, Janbernd, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns

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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study mā 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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Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model mā MacCannell, Drew, Berger, Zdenek, Kirschner, Janbernd, Mercuri, Eugenio, Farrar, Michelle A., Iannaccone, Susan T., Kuntz, Nancy L., Finkel, Richard S., Valente, Marta, Muntoni, Francesco

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SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy mā 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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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany mā 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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European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy mā Kirschner, Janbernd, Butoianu, Nina, Goemans, Nathalie, Haberlova, Jana, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, van der Pol, W. Ludo, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., Ziegler, Andreas, Servais, Laurent, Muntoni, Francesco

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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies mā Bartsakoulia, Marina, Pyle, Angela, Troncoso-Chandía, Diego, Vial-Brizzi, Josefa, Paz-Fiblas, Marysol V, Duff, Jennifer, Griffin, Helen, Boczonadi, Veronika, Lochmüller, Hanns, Kleinle, Stephanie, Chinnery, Patrick F, Grünert, Sarah, Kirschner, Janbernd, Eisner, Verónica, Horvath, Rita

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