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  1. 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

  2. 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

  3. Saffari, Afshin [Author]; Cannet, Claire [Author]; Blaschek, Astrid [Author]; Hahn, Andreas [Author]; Hoffmann, Georg F. [Author]; Johannsen, Jessika [Author]; Kirsten, Romy [Author]; Kockaya, Musa [Author]; Kölker, Stefan [Author]; Müller-Felber, Wolfgang [Author]; Roos, Andreas [Author]; Schäfer, Hartmut [Author]; Schara, Ulrike [Author]; Spraul, Manfred [Author]; Trefz, Friedrich K. [Author]; Vill, Katharina [Author]; Wick, Wolfgang [Author]; Weiler, Markus [Author]; Okun, Jürgen G. [Author]; Ziegler, Andreas [Author]

    1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

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    20 October 2021

    Published in: Orphanet journal of rare diseases ; 16(2021), Artikel-ID 441, Seite 1-16

  4. 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

  10. Hermann, Katharina; Johannsen, Jessika; Kloth, Katja; Denecke, Jonas

    Late Diagnosis of Pyridoxine-dependent Epilepsy due to a PROSC-mutation with Whole-exome-Sequencing and Natural History without Administration of Pyridoxine until Adolescence

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    Georg Thieme Verlag KG, 2019

    Published in: Neuropediatrics

  12. Hermann, Katharina; Kloth, Katja; Johannsen, Jessika; Denecke, Jonas

    P 1147. Pyridostigmine Leads to Relevant Improvement of Motor Function in an Infant with RYR1-Related Congenital Myopathy

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    Georg Thieme Verlag KG, 2018

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

  13. Weiss, Deike; Denecke, Jonas; Driemeyer, Joenna; Johannsen, Jessika

    P 960. Intrathecal Administration of Nusinersen in Patients with SMA: Experience and Challenges—A Single-Center Report

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    Georg Thieme Verlag KG, 2018

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

  18. Johannsen, Jessika; Fuhrmann, Lena; Grolle, Benjamin; Morgenstern, Lydia; Wiegand-Grefe, Silke; Denecke, Jonas

    The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

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    Springer Science and Business Media LLC, 2020

    Published in: Health and Quality of Life Outcomes

  20. Johannsen, Jessika; Bierhals, Tatjana; Deindl, Philipp; Hecher, Laura; Hermann, Katharina; Hempel, Maja; Kloth, Katja; Denecke, Jonas

    Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

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    Georg Thieme Verlag KG, 2019

    Published in: Journal of Pediatric Genetics