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Objective measurement of oral function in adults with spinal muscular atrophy

2023 . Kruse, Teresa | Shamai, S. | Leflerovà, D. | Wirth, B. | Heller, R. | Schloss, N. | Lehmann, H. C. | Brakemeier, S. | Hagenacker, T. | Braumann, B. | Wunderlich, G.

Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease

2022 . Steindor, Mathis | Pichler, Anna | Heitschmidt, Laura | Pitsikoulis, Eva | Kavvalou, Alexandra | Orhan, Eser | Olivier, Margerete | Stehling, Florian

Neugeborenenscreening auf spinale Muskelatrophie

2021 . Müller-Felber, W. | Vill, K. | Schwartz, O. | Blaschek, A. | Nennstiel, U. | Schara, U. | Hoffmann, G. F. | Gläser, D. | Becker, M. | Röschinger, W. | Bernert, G. | Klein, A. | Kölbel, H.

Nusinersen treatment in adult patients with spinal muscular atrophy: a safety analysis of laboratory parameters

2021 . Stolte, Benjamin | Nonnemacher, Michael | Kizina, Kathrin | Bolz, Saskia | Totzeck, Andreas | Thimm, Andreas | Wagner, Bernd | Deuschl, Cornelius | Kleinschnitz, Christoph | Hagenacker, Tim

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

Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

2021 . Freigang, Maren | Steinacker, Petra | Wurster, Claudia Diana | Schreiber-Katz, Olivia | Osmanovic, Alma | Petri, Susanne | Koch, Jan Christoph | Rostásy, Kevin | Falkenburger, Björn | Ludolph, Albert Christian | Otto, Markus | Hermann, Andreas | Günther, René

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

2021 . Mix, Lucas | Schreiber-Katz, Olivia | Wurster, Claudia D. | Uzelac, Zeljko | Platen, Sophia | Gipperich, Christina | Ranxha, Gresa | Wieselmann, Gary | Osmanovic, Alma | Ludolph, Albert C. | Petri, Susanne | Lulé, Dorothée

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment

2020 . Binz, Camilla | Schreiber-Katz, Olivia | Kumpe, Mareike | Ranxha, Gresa | Siegler, Hannah | Wieselmann, Gary | Petri, Susanne | Osmanovic, Alma

Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy

2020 . Osmanovic, Alma | Ranxha, Gresa | Kumpe, Mareike | Müschen, Lars | Binz, Camilla | Wiehler, Flavia | Paracka, Lejla | Körner, Sonja | Kollewe, Katja | Petri, Susanne | Schreiber-Katz, Olivia

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