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  1. Schorling, David [Author]; Pechmann, Astrid [Author]; Kirschner, Janbernd [Author]

    Advances in treatment of spinal muscular atrophy - new phenotypes, new challenges, new implications for care

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    Amsterdam: IOS Press, 2020

    Published in: Journal of neuromuscular diseases ; 7, 1 (2020), 1-13

  2. Kiefer, Petra [Author]; Kirschner, Janbernd [Author]; Pechmann, Astrid [Author]; Langer, Thorsten [Author]

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

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    London: BioMed Central, 2020

    Published in: Orphanet journal of rare diseases ; 15, 1 (2020), 194

  3. Pechmann, Astrid [Author]; Wellmann, Sven [Author]; Stoecklin, Benjamin [Author]; Krüger, Marcus [Author]; Zieger, Barbara [Author]

    Increased von Willebrand factor parameters in children with febrile seizures

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    San Francisco, California: Public Library of Science, 2019

    Published in: PLOS ONE ; 14, 1 (2019), e0210004

  4. Landfeldt, Erik [Author]; Pechmann, Astrid [Author]; McMillan, Hugh J. [Author]; Lochmüller, Hanns [Author]; Sejersen, Thomas [Author]

    Costs of illness of spinal muscular atrophy: a systematic review

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    Berlin: Springer, 2021

    Published in: Applied health economics and health policy ; 19 (2021), 501–520

  5. Schorling, David [Author]; Pechmann, Astrid [Author]; Eckenweiler, Matthias [Author]; Müller, Cornelia K. [Author]; Langer, Thorsten [Author]; Kirschner, Janbernd [Author]

    Post‐dural puncture headache - a single‐centre analysis in paediatric patients with and without SMA

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    Oxford: Wiley, 2021

    Published in: Acta paediatrica ; 110, 6 (2021), 1895-1901

  6. Schorling, David [Author]; Müller, Cornelia K. [Author]; Pechmann, Astrid [Author]; Borell, Sabine [Author]; Langer, Thorsten [Author]; Thiele, Simone [Author]; Walter, Maggie C. [Author]; Zieger, Barbara [Author]; Kirschner, Janbernd [Author]

    Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey

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    Ospedaletto (PI): Pacini, 2020

    Published in: Acta myologica ; 39 (2020), 2-12

  7. König, Kirsten [Author]; Pechmann, Astrid [Author]; Thiele, Simone [Author]; Walter, Maggie C. [Author]; Schorling, David [Author]; Tassoni, Adrian [Author]; Lochmüller, Hanns [Author]; Müller-Reible, Clemens [Author]; Kirschner, Janbernd [Author]

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

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare diseases ; 14 (2019, 152

  8. Schorling, David [Author]; Kölbel, Heike [Author]; Hentschel, Andreas [Author]; Pechmann, Astrid [Author]; Meyer, Nancy [Author]; Wirth, Brunhilde [Author]; Rombo, Roman [Author]; Sickmann, Albert [Author]; Kirschner, Janbernd [Author]; Schara-Schmidt, Ulrike [Author]; Lochmüller, Hanns [Author]; Roos, Andreas [Author]

    Cathepsin D as biomarker in CSF of nusinersen‐treated patients with spinal muscular atrophy

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    Oxford: Wiley, 2022

    Published in: European journal of neurology ; 29, 7 (2022), 2084-2096

  9. Pechmann, Astrid [Author]; König, Kirsten [Author]; Bernert, Günther [Author]; Schachtrup, Kristina [Author]; Schara, Ulrike [Author]; Schorling, David [Author]; Schwersenz, Inge [Author]; Stein, Sabine [Author]; Tassoni, Adrian [Author]; Vogt, Sibylle [Author]; Walter, Maggie C. [Author]; Lochmüller, Hanns [Author]; Kirschner, Janbernd [Author]

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

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare diseases ; 14, 1 (2019), 419$z1750-1172

  10. Ziegler, Andreas [Author]; Wilichowski, Ekkehard [Author]; Schara, Ulrike [Author]; Hahn, Andreas [Author]; Müller-Felber, Wolfgang [Author]; Johannsen, Jessika [Author]; Hagen, Maja von der [Author]; Moers, Arpad von [Author]; Stoltenburg, Corinna [Author]; Saffari, Afshin [Author]; Walter, Maggie C. [Author]; Husain, Ralf A. [Author]; Pechmann, Astrid [Author]; Köhler, Cornelia [Author]; Horber, Veronka [Author]; Schwartz, Oliver [Author]; Kirschner, Janbernd [Author]

    Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.

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    Berlin; Heidelberg: Springer Nature, 2020

    Published in: Der Nervenarzt ; 91, 6 (2020), 518-529

  11. Ziegler, Andreas [Author]; Wilichowski, Ekkehard [Author]; Schara, Ulrike [Author]; Hahn, Andreas [Author]; Müller-Felber, Wolfgang [Author]; Johannsen, Jessika [Author]; Hagen, Maja von der [Author]; Moers, Arpad von [Author]; Stoltenburg, Corinna [Author]; Saffari, Afshin [Author]; Walter, Maggie C. [Author]; Husain, Ralf [Author]; Pechmann, Astrid [Author]; Köhler, Cornelia [Author]; Horber, Veronka [Author]; Schwartz, Oliver [Author]; Kirschner, Janbernd [Author]

    Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec - AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V.

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    11 May 2020

    Published in: Der Nervenarzt ; 91(2020), 6, Seite 518-529

  12. Balaraju, Sunitha [Author]; Töpf, Ana [Author]; McMacken, Grace M. [Author]; Preethish-Kumar, Veeramani [Author]; Pechmann, Astrid [Author]; Roper, Helen [Author]; Vengalil, Seena [Author]; Polavarapu, Kiran [Author]; Nashi, Saraswati [Author]; Mahajan, Niranjan Prakash [Author]; Barbosa, Ines A. [Author]; Deshpande, Charu [Author]; Taylor, Robert W. [Author]; Cossins, Judith [Author]; Beeson, David [Author]; Laurie, Steven [Author]; Kirschner, Janbernd [Author]; Horvath, Rita [Author]; McFarland, Robert [Author]; Nalini, Atchayaram [Author]; Lochmüller, Hanns [Author]

    Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

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    Basingstoke: Stockton Press, 2020

    Published in: European journal of human genetics ; 28, 3 (2020), 373-377

  13. Müller-Felber, Wolfgang [Author]; Blaschek, Astrid [Author]; Schwartz, Oliver [Author]; Gläser, Dieter [Author]; Nennstiel, Uta [Author]; Brockow, Inken [Author]; Wirth, Brunhilde [Author]; Burggraf, Siegfried [Author]; Röschinger, Wulf [Author]; Becker, Marc [Author]; Durner, Jürgen [Author]; Eggermann, Katja [Author]; Kölbel, Heike [Author]; Müller, Christine [Author]; Hannibal, Iris [Author]; Olgemöller, Bernd [Author]; Schara, Ulrike [Author]; von Moers, Arpad [Author]; Trollmann, Regina [Author]; Johannssen, Jessika [Author]; Ziegler, Andreas [Author]; Cirak, Sebahattin [Author]; Hahn, Andreas [Author]; von der Hagen, Maja [Author]; [...]

    Newbornscreening SMA : from pilot project to nationwide screening in Germany

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    3 January 2023

    Published in: Journal of neuromuscular diseases ; 10(2023), 1, Seite 55-65

  14. Pechmann, Astrid [Author]; Behrens, Max [Author]; Dörnbrack, Katharina [Author]; Tassoni, Adrian [Author]; Wenzel, Franziska [Author]; Stein, Sabine [Author]; Vogt, Sibylle [Author]; Zöller, Daniela [Author]; Bernert, Günther [Author]; Hagenacker, Tim [Author]; Schara-Schmidt, Ulrike [Author]; Walter, Maggie C. [Author]; Steinbach, Meike [Author]; Blaschek, Astrid [Author]; Baumann, Matthias [Author]; Baumgartner, Manuela [Author]; Becker, Benedikt [Author]; Flotats-Bastardas, Marina [Author]; Friese, Johannes [Author]; Günther, Rene [Author]; Hahn, Andreas [Author]; Küpper, Hanna [Author]; Johannsen, Jessika [Author]; Kamm, Christoph [Author]; [...]

    Improvements in walking distance during nusinersen treatment : a prospective 3-year SMArtCARE registry study

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    3 January 2023

    Published in: Journal of neuromuscular diseases ; 10(2023), 1, Seite 29-40

  18. Pechmann, Astrid; Langer, Thorsten; Kirschner, Janbernd

    P 900. Decision Making Regarding Ventilator Support in Children with SMA type 1—A Cross-sectional Survey among German Physicians

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    Georg Thieme Verlag KG, 2018

    Published in: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics