Search Results

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 by Vill, Katharina (Author) , Kamm, Christoph (Author) , Mensch, Alexander (Author) , Weiler, Markus (Author) , Ziegler, Andreas (Author) ,

• Resolving-System, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext
• Resolving-System, kostenfrei

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study by Weiß, Claudia (Author) , Becker, Lena-Luise (Author) , Friese, Johannes (Author) , Blaschek, Astrid (Author) , Hahn, Andreas (Author) , Illsinger, Sabine (Author) , Schwartz, Oliver (Author) , Bernert, Günther (Author) , Hagen, Maja von der (Author) , Husain, Ralf A. (Author) , Goldhahn, Klaus (Author) , Kirschner, Janbernd (Author) , Pechmann, Astrid (Author) , Flotats-Bastardas, Marina (Author) , Schreiber, Gudrun (Author) , Schara, Ulrike (Author) , Plecko, Barbara (Author) , Trollmann, Regina (Author) , Horber, Veronka (Author) , Wilichowski, Ekkehard (Author) , Baumann, Matthias (Author) , Klein, Andrea (Author) , Eisenkölbl, Astrid (Author) , Köhler, Cornelia (Author) , Stettner, Georg M. (Author) , Cirak, Sebahattin (Author) , Hasselmann, Oswald (Author) , Kaindl, Angela M. (Author) , Garbade, Sven (Author) , Johannsen, Jessika (Author) , Ziegler, Andreas (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

TOR signaling regulates liquid phase separation of the SMN complex governing snRNP biogenesis by Schilling, Maximilian Thomas (Author) , Prusty, Archana B. (Author) , Boysen, Björn (Author) , Oppermann, Felix Sebastian (Author) , Riedel, Yannick L. (Author) , Husedzinovic, Alma (Author) , Rasouli, Homa (Author) , König, Angelika (Author) , Ramanathan, Pradhipa (Author) , Reymann, Jürgen (Author) , Erfle, Holger (Author) , Daub, Henrik (Author) , Fischer, Utz (Author) , Gruss, Oliver (Author) ,

• Resolving-System, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

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

• Verlag, kostenfrei, Volltext

CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN by Lafarga, Vanesa (Author) , Sharma, Sahil (Author) , Stoecklin, Georg (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Phosphoregulation of the human SMN complex by Husedzinovic, Alma (Author) , Oppermann, Felix Sebastian (Author) , Dräger-Meurer, Stefanie (Author) , Chari, Ashwin (Author) , Fischer, Utz (Author) , Daub, Henrik (Author) , Gruss, Oliver (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext