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First-In-Human Application of Human Umbilical Cord-Derived Extracellular Vesicles in Tethered Spinal Cord Release Surgery.
Krause M, Gburek-Augustat J, Gräfe D, Metzger R, Ginzel M, Griessenauer CJ, Grassner L, Weghuber D, Gradl J, Auer D, Schally T, Rund S, Kals C, Folie C, Bayer E, Gimona M, Rohde E. Krause M, et al. Among authors: gburek augustat j. J Extracell Vesicles. 2025 Jun;14(6):e70104. doi: 10.1002/jev2.70104. J Extracell Vesicles. 2025. PMID: 40536443 Free PMC article.
Cerebrospinal Fluid Protein Concentrations in Hydrocephalus.
Wilhelmy F, Krause M, Schob S, Merkenschlager A, Wachowiak R, Härtig W, Meixensberger J, Gburek-Augustat J, Wende T. Wilhelmy F, et al. Children (Basel). 2023 Mar 30;10(4):644. doi: 10.3390/children10040644. Children (Basel). 2023. PMID: 37189895 Free PMC article.
Precision Medicine in Angelman Syndrome.
Manssen L, Krey I, Gburek-Augustat J, von Hagen C, Lemke JR, Merkenschlager A, Weigand H, Makowski C. Manssen L, et al. Among authors: gburek augustat j. Neuropediatrics. 2025 Apr;56(2):69-82. doi: 10.1055/a-2399-0191. Epub 2024 Aug 21. Neuropediatrics. 2025. PMID: 39168152 Free article. Review.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264 Free PMC article.
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: gburek augustat j. Eur J Paediatr Neurol. 2025 Jan;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Epub 2024 Nov 23. Eur J Paediatr Neurol. 2025. PMID: 39603091
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