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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. Among authors: wiemer kruel a. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler A, Syrbe S. Saffari A, et al. Orphanet J Rare Dis. 2019 May 3;14(1):96. doi: 10.1186/s13023-019-1077-6. Orphanet J Rare Dis. 2019. PMID: 31053163 Free PMC article.
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Willems LM, Schubert-Bast S, Grau J, Hertzberg C, Kurlemann G, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Zöllner JP, Rosenow F, Strzelczyk A. Willems LM, et al. Among authors: wiemer kruel a. Eur J Paediatr Neurol. 2021 Nov;35:111-122. doi: 10.1016/j.ejpn.2021.10.003. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34673401
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
Grau J, Zöllner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Willems LM, Rosenow F, Strzelczyk A. Grau J, et al. Among authors: wiemer kruel a. Orphanet J Rare Dis. 2021 Jun 21;16(1):282. doi: 10.1186/s13023-021-01899-x. Orphanet J Rare Dis. 2021. PMID: 34154622 Free PMC article.
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.
Willems LM, Rosenow F, Schubert-Bast S, Kurlemann G, Zöllner JP, Bast T, Bertsche A, Bettendorf U, Ebrahimi-Fakhari D, Grau J, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klein KM, Klotz KA, Kluger G, Knake S, Knuf M, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Ruf S, Sauter M, Schäfer H, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Strzelczyk A. Willems LM, et al. Among authors: wiemer kruel a. CNS Drugs. 2021 Oct;35(10):1107-1122. doi: 10.1007/s40263-021-00839-4. Epub 2021 Jul 17. CNS Drugs. 2021. PMID: 34275102 Free PMC article.
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.
Strzelczyk A, Grau J, Bast T, Bertsche A, Bettendorf U, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klotz KA, Kluger G, Knake S, Knuf M, Kurlemann G, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Rosenow F, Ruf S, Sauter M, Schäfer H, Schlump JU, Schubert-Bast S, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Zöllner JP. Strzelczyk A, et al. Among authors: wiemer kruel a. Expert Rev Clin Pharmacol. 2021 Jun;14(6):749-760. doi: 10.1080/17512433.2021.1911643. Epub 2021 May 31. Expert Rev Clin Pharmacol. 2021. PMID: 33792454 Review.
31 results