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Page 1
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.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Clinical Trial.
Outbreak of severe community-acquired bacterial infections among children in North Rhine-Westphalia (Germany), October to December 2022.
Goretzki SC, van der Linden M, Itzek A, Hühne T, Adelmann RO, Ala Eldin F, Albarouni M, Becker JC, Berghäuser MA, Boesing T, Boeswald M, Brasche M, Brevis Nuñez F, Camara R, Deibert C, Dohle F, Dolgner J, Dziobaka J, Eifinger F, Elting N, Endmann M, Engelmann G, Frenzke H, Gappa M, Gharavi B, Goletz C, Hahn E, Heidenreich Y, Heimann K, Hensel KO, Hoffmann HG, Hoppenz M, Horneff G, Klassen H, Koerner-Rettberg C, Längler A, Lenz P, Lohmeier K, Müller A, Niemann F, Paulussen M, Pentek F, Perez R, Pingel M, Repges P, Rothoeft T, Rübo J, Schade H, Schmitz R, Schonhoff P, Schwade JN, Schwarz T, Seiffert P, Selzer G, Spille U, Thiel C, Thimm A, Urgatz B, van den Heuvel A, van Hop T, Giesen V, Wirth S, Wollbrink T, Wüller D, Felderhoff-Müser U, Dohna-Schwake C, Lâm TT, Claus H, Bruns N. Goretzki SC, et al. Among authors: thimm a. Infection. 2024 Jun;52(3):1099-1111. doi: 10.1007/s15010-023-02165-x. Epub 2024 Feb 16. Infection. 2024. PMID: 38366304 Free PMC article.
Daratumumab in first-line treatment of patients with light chain amyloidosis and Mayo stage IIIb improves treatment response and overall survival.
Oubari S, Hegenbart U, Schoder R, Steinhardt M, Papathanasiou M, Rassaf T, Thimm A, Hagenacker T, Naser E, Duhrsen U, Reinhardt HC, Kortum M, Agis H, Schonland S, Carpinteiro A. Oubari S, et al. Among authors: thimm a. Haematologica. 2024 Jan 1;109(1):220-230. doi: 10.3324/haematol.2023.283325. Haematologica. 2024. PMID: 37439344 Free PMC article.
Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
Thimm A, Carpinteiro A, Oubari S, Papathanasiou M, Kessler L, Rischpler C, Malik RA, Herrmann K, Reinhardt HC, Rassaf T, Kleinschnitz C, Hagenacker T, Stettner M. Thimm A, et al. J Neurol. 2023 Jul;270(7):3483-3491. doi: 10.1007/s00415-023-11689-z. Epub 2023 Apr 4. J Neurol. 2023. PMID: 37014422 Free PMC article.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.
Thimm A, Oubari S, Hoffmann J, Carpinteiro A, Papathanasiou M, Luedike P, Kessler L, Rischpler C, Röcken C, Diebold I, Rassaf T, Schmidt H, Kleinschnitz C, Hagenacker T. Thimm A, et al. BMC Neurol. 2022 Dec 9;22(1):469. doi: 10.1186/s12883-022-02952-3. BMC Neurol. 2022. PMID: 36494773 Free PMC article.
32 results