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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 2024 . Vill, Katharina \| Tacke, Moritz \| König, Anna \| Baumann, Matthias \| Baumgartner, Manuela \| Steinbach, Meike \| Bernert, Guenther \| Blaschek, Astrid \| Deschauer, Marcus \| Flotats-Bastardas, Marina \| Friese, Johannes \| Goldbach, Susanne \| Gross, Martin \| Günther, René \| Hahn, Andreas \| Hagenacker, Tim \| Hauser, Erwin \| Horber, Veronka \| Illsinger, Sabine \| Johannsen, Jessika \| Kamm, Christoph \| Koch, Jan C. \| Koelbel, Heike \| Koehler, Cornelia \| Kolzter, Kirsten \| Lochmüller, Hanns \| Ludolph, Albert \| Mensch, Alexander \| Meyer zu Hoerste, Gerd \| Mueller, Monika \| Mueller-Felber, Wolfgang \| Neuwirth, Christoph \| Petri, Susanne \| Probst-Schendzielorz, Kristina \| Pühringer, Manuel \| Steinbach, Robert \| Schara-Schmidt, Ulrike \| Schimmel, Mareike \| Schrank, Bertold \| Schwartz, Oliver \| Schlachter, Kurt \| Schwerin-Nagel, Annette \| Schreiber, Gudrun \| Smitka, Martin \| Topakian, Raffi \| Trollmann, Regina \| Tuerk, Matthias \| Theophil, Manuela \| Rauscher, Christian \| Vorgerd, Mathias \| Walter, Maggie C. \| Weiler, Markus \| Weiss, Claudia \| Wilichowski, Ekkehard \| Wurster, Claudia D. \| Wunderlich, Gilbert \| Zeller, Daniel \| Ziegler, Andreas \| Kirschner, Janbernd \| Pechmann, Astrid \| SMArtCARE study group	2024		http://purl.org/ontology/bibo/Article
Switching from inotersen to eplontersen in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: analysis from NEURO-TTRansform 2024 . CONCEICAO, ISABEL \| Berk, John L. \| Weiler, Markus \| Kowacs, Pedro A. \| Dasgupta, Noel R. \| Khella, Sami \| Chao, Chi-Chao \| Attarian, Shahram \| Kwoh, T. Jesse \| Jung, Shiangtung W. \| Chen, Jersey \| Viney, Nicholas J. \| Yu, Rosie Z. \| Gertz, Morie \| Masri, Ahmad \| Cruz, Márcia Waddington \| Coelho, Teresa	2024		http://purl.org/ontology/bibo/Article
Technical note: Discrete in situ vapor sampling for subsequent lab-based water stable isotope analysis 2023 . Herbstritt, Barbara \| Gralher, Benjamin \| Seeger, Stefan \| Rinderer, Michael \| Weiler, Markus	2023		http://purl.org/ontology/bibo/Article
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy 2021 . Saffari, Afshin \| Cannet, Claire \| Blaschek, Astrid \| Hahn, Andreas \| Hoffmann, Georg F. \| Johannsen, Jessika \| Kirsten, Romy \| Kockaya, Musa \| Kölker, Stefan \| Müller-Felber, Wolfgang \| Roos, Andreas \| Schäfer, Hartmut \| Schara, Ulrike \| Spraul, Manfred \| Trefz, Friedrich K. \| Vill, Katharina \| Wick, Wolfgang \| Weiler, Markus \| Okun, Jürgen G. \| Ziegler, Andreas	2021		http://purl.org/ontology/bibo/Article
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature 2020 . Dohrn, Maike F \| Auer-Grumbach, Michaela \| Baron, Ralf \| Birklein, Frank \| Escolano-Lozano, Fabiola \| Geber, Christian \| Grether, Nicolai \| Hagenacker, Tim \| Hund, Ernst \| Sachau, Juliane \| Schilling, Matthias \| Schmidt, Jens \| Schulte-Mattler, Wilhelm \| Sommer, Claudia \| Weiler, Markus \| Wunderlich, Gilbert \| Hahn, Katrin	2020		http://purl.org/ontology/bibo/Article