检索结果 - Kirschner, Janbernd

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

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Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care 由 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 由 Kiefer, Petra, Kirschner, Janbernd, Pechmann, Astrid, Langer, Thorsten

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Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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