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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.

Autor: Weiß C; Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany., Becker LL; Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany.; Department of Pediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Lindwurmstr. 4, Munich 80337, Germany., Friese J; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany., Blaschek A; Charité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Pediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Lindwurmstr. 4, Munich 80337, Germany., Hahn A; Department of Child Neurology, University Hospital, Rudolf-Buchheim-Str. 8, Gießen 35392, Germany., Illsinger S; Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Carl-Neuberg Str. 1, Hannover 30625, Germany., Schwartz O; Department of Pediatric Neurology, University Hospital, Albert-Schweitzer-Strasse 33, Münster, Germany., Bernert G; Department of Pediatrics, Klinik Favoriten, Kundratstr. 3, Vienna 1100, Austria., Hagen MV; Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, Dresden 01307, Germany., Husain RA; Department of Neuropediatrics, Jena University Hospital, Bachstr. 18, Jena 07743, Germany., Goldhahn K; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Spandauer Damm 130, Berlin 14050, Germany., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Heiliggeist-Str. 1, Freiburg 79106, Germany., Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Heiliggeist-Str. 1, Freiburg 79106, Germany., Flotats-Bastardas M; University Hospital Homburg, Department of Pediatric Neurology, Kirrberger Str. 100, Homburg 66421, Germany., Schreiber G; Klinikum Kassel, Department of Pediatric Neurology, Mönchebergstr. 41-43, Kassel 34125, Germany., Schara U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Germany., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University Graz, Auenbruggerplatz 2, Graz 8036, Austria., Trollmann R; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University of Erlangen-Nürnberg, Maximiliansplatz 2, Erlangen 91054, Germany., Horber V; Department of Pediatric Neurology, University Children's Hospital, Hoppe-Seyler-Str. 1, Tübingen 72076, Germany., Wilichowski E; Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology, University Medical Centre Göttingen, Georg August University Göttingen, Germany., Baumann M; Department of Pediatrics I, Division of Pediatric Neurology, Medical University Innsbruck, Innsbruck, Austria., Klein A; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Krankenhausstrasse 26-30, Linz 4020, Austria., Köhler C; Bochum Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany., Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zurich CH-8032, Switzerland., Cirak S; Ulm University, Department of Pediatrics, Albert-Einstein-Allee 23, Ulm 89081, Germany., Hasselmann O; Department of Neuropediatrics, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland., Kaindl AM; Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany.; Department of Pediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Lindwurmstr. 4, Munich 80337, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, Heidelberg 69120, Germany., Johannsen J; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Martinistr. 52, Hamburg 20246, Germany., Ziegler A; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.

Publikováno v: The Lancet regional health. Europe [Lancet Reg Health Eur] 2024 Oct 07; Vol. 47, pp. 101092. Date of Electronic Publication: 2024 Oct 07 (Print Publication: 2024).

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Autor: Borg K; Departments of Clinical Sciences and Neurology Karolinska Institutet Danderyds Hospital, Division of Rehabilitation Medicine, Stockholm, Sweden., Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen Mv, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B

Publikováno v: Human mutation [Hum Mutat] 2009 Sep; Vol. 30 (9), pp. E831-44.