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Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

2024 . Bjelica, Bogdan | Wohnrade, Camilla | Cespedes, Iraima | Osmanovic, Alma | Schreiber-Katz, Olivia | Petri, Susanne

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study

2024 . de Lemus, Mencía | Cattinari, Maria Grazia | Pascual, Samuel I. | Medina, Julita | García, Mar | Magallón, Ana | Dumont, María | Rebollo, Pablo

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

2024 . Trollmann, Regina | Johannsen, Jessika | Vill, Katharina | Köhler, Cornelia | Hahn, Andreas | Illsinger, Sabine | Pechmann, Astrid | Hagen, Maja von der | Müller-Felber, Wolfgang

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.

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

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

Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons

2020 . Thelen, Maximilian Paul | Wirth, Brunhilde | Kye, Min Jeong