Lehrstuhl für Kinder- und Jugendmedizin

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia (2023) Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, et al. Journal article Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany (2023) Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, et al. Journal article Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study (2023) Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, et al. Journal article Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy (2023) Danko V, Jüngert JM, Schüssler S, Bühler A, Klett D, Federle A, Roos A, et al. Journal article Age-related Differences in Immune Reactions to SARS-CoV-2 Spike and Nucleocapsid Antigens (2023) Morhart P, Kehl S, Schuh W, Hermes K, Meltendorf S, Neubert A, Schneider M, et al. Journal article High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations (2023) Reutter HM Journal article Effects of the STAMP-inhibitor asciminib on T cell activation and metabolic fitness compared to tyrosine kinase inhibition by imatinib, dasatinib, and nilotinib (2023) Häselbarth L, Karow A, Mentz K, Böttcher M, Roche-Lancaster O, Krumbholz M, Jitschin R, et al. Journal article Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update (2022) Peschel N, Wright JT, Koster MI, Clarke AJ, Tadini G, Fete M, Hadj-Rabia S, et al. Journal article Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study (2022) Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, et al. Journal article Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (Orphanet Journal of Rare Diseases, (2022), 17, 1, (276), 10.1186/s13023-022-02420-8) (2022) Hahn A, Günther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al. Journal article, Erratum