Search Results - Pechmann, Astrid

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  1. 1
    Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

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

    Published 2020
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  2. 2
    Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study

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

    Published 2020
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  3. 3
    Increased von Willebrand factor parameters in children with febrile seizures

    Increased von Willebrand factor parameters in children with febrile seizures by Pechmann, Astrid, Wellmann, Sven, Stoecklin, Benjamin, Krüger, Marcus, Zieger, Barbara

    Published 2019
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  4. 4
    Costs of Illness of Spinal Muscular Atrophy: A Systematic Review

    Costs of Illness of Spinal Muscular Atrophy: A Systematic Review by Landfeldt, Erik, Pechmann, Astrid, McMillan, Hugh J., Lochmüller, Hanns, Sejersen, Thomas

    Published 2021
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  5. 5
    Transcranial magnetic stimulation with a half-sine wave pulse elicits direction-specific effects in human motor cortex

    Transcranial magnetic stimulation with a half-sine wave pulse elicits direction-specific effects in human motor cortex by Jung, Nikolai H, Delvendahl, Igor, Pechmann, Astrid, Gleich, Bernhard, Gattinger, Norbert, Siebner, Hartwig R, Mall, Volker

    Published 2012
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  6. 6
    De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

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

    Published 2019
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  7. 7
    Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey

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

    Published 2020
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  8. 8
    Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study

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

    Published 2019
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  9. 9
    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy by 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

    Published 2019
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  10. 10
    Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

    Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany by 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

    Published 2018
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  11. 11
    Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

    Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns

    Published 2019
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