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Page 1
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: hobbiebrunken e. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial.
Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R. Kirschner J, et al. Among authors: hobbiebrunken e. Lancet Neurol. 2010 Nov;9(11):1053-9. doi: 10.1016/S1474-4422(10)70196-4. Epub 2010 Aug 26. Lancet Neurol. 2010. PMID: 20801085 Clinical Trial.
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B. Shoukier M, et al. Among authors: hobbiebrunken e. Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21. Clin Genet. 2013. PMID: 22283495
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A. Holzwarth J, et al. Among authors: hobbiebrunken e. Neuropediatrics. 2022 Feb;53(1):39-45. doi: 10.1055/s-0041-1735250. Epub 2021 Dec 1. Neuropediatrics. 2022. PMID: 34852371
The Development of Extremely Premature Infants.
Voss W, Hobbiebrunken E, Ungermann U, Wagner M, Damm G. Voss W, et al. Among authors: hobbiebrunken e. Dtsch Arztebl Int. 2016 Dec 26;113(51-52):871-878. doi: 10.3238/arztebl.2016.0871. Dtsch Arztebl Int. 2016. PMID: 28130919 Free PMC article.
18 results