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  2. Oertel, Frederike C. [Author]; Outteryck, Olivier [Author]; Knier, Benjamin Peter [Author]; Zimmermann, Hanna [Author]; Borisow, Nadja [Author]; Bellmann-Strobl, Judith [Author]; Blaschek, Astrid [Author]; Jarius, Sven [Author]; Reindl, Markus [Author]; Ruprecht, Klemens [Author]; Meinl, Edgar [Author]; Hohlfeld, Reinhard [Author]; Paul, Friedemann [Author]; Brandt, Alexander Ulrich [Author]; Kümpfel, Tania [Author]; Havla, Joachim [Author]

    Optical coherence tomography in myelin-oligodendrocyte-glycoprotein antibody-seropositive patients: a longitudinal study

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    London: BioMed Central, 2019 ; Heidelberg: Universitätsbibliothek Heidelberg, 2019

  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. 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

  5. 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

  11. van's Gravesande, Karin Storm; Kalbe, Elke; Blaschek, Astrid; Calabrese, Pasquale; Kessler, Josef; Schuler, Heike; Mall, Volker

    FV 658. Cognitive Impairment, Depression, Fatigue, and Quality of Life in Pediatric-Onset Multiple Sclerosis: Results of the Multiple Sclerosis Inventory of Cognition in ADOlescents Study

    Conference Proceedings
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    Georg Thieme Verlag KG, 2018

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

  15. Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Příhodová, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina; Zech, Michael

    Challenges in Establishing the Diagnosis of PRRT2‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

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    Wiley, 2023

    Published in: Movement Disorders Clinical Practice

  17. Blaschek, Astrid; Rodrigues, Martin; Rawer, Rainer; Müller, Christine; Ille, Lena; Schröder, Sebastian; Idriess, Mohamed; Müller-Felber, Wolfgang; Vill, Katharina

    Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy

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    Georg Thieme Verlag KG, 2021

    Published in: Neuropediatrics

  19. Vill, Katharina; Müller-Felber, Wolfgang; Blaschek, Astrid; Schröder, Sebastian; Gläser, Dieter; Kuhn, Marius; Meitinger, Thomas; Wagner, Matias

    P 913. Heterozygous Nonsense Variant in the TCF20 Gene as a Cause of Congenital Myopathy

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    Georg Thieme Verlag KG, 2018

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