Dr. med. Stefanie Dreha-Kulaczewski

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unigoe
 

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  • 2022 | Journal Article | 
    ​ ​Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber, Marie-Kristin, Wilken B, Funke R, et al. ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​. ​​Frontiers in Cell and Developmental Biology. ​2022;​10​. ​doi:10.3389/fcell.2022.1025332. 
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Kollmeier JM, Gürbüz-Reiss L, Sahoo P, Badura S, Ellebracht B, Keck M, et al. ​Deep breathing couples CSF and venous flow dynamics​. ​​Scientific Reports. ​2022;​12​(1). ​doi:10.1038/s41598-022-06361-x. 
    ​Details  DOI 
  • 2021 | Journal Article | 
    ​ ​Ludwig HC, Bock HC, Gärtner J, Schiller S, Frahm J, Dreha-Kulaczewski S. ​Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales​. ​​Neuropediatrics. ​2021;​52​(04):​​233​-241​. ​doi:10.1055/s-0041-1731981. 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, et al. ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​. ​​Genetics in Medicine. ​2020;​23​(2):​​341​-351​. ​doi:10.1038/s41436-020-00979-w. 
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  • 2019 | Journal Article
    ​ ​Ludwig, Hans-Christoph, Frahm J, Gärtner J, Dreha-Kulaczewski S. ​Breathing drives CSF: Impact on spaceflight disease and hydrocephalus​. ​​Proceedings of the National Academy of Sciences. ​2019;​116​(41):​​20263​-20264​. ​doi:10.1073/pnas.1910305116. 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Wilke M, Dreha-Kulaczewski S. ​Aktuelle Techniken der Magnetresonanztomographie in der Neuropädiatrie: ​Anwendungen für Diagnostik, perioperatives Management und Therapiekontrollen​. ​​Monatsschrift Kinderheilkunde. ​2019;​167​(4):​​308​-317​. ​doi:10.1007/s00112-019-0656-x. 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Bock HC, Dreha-Kulaczewski SF, Alaid A, Gärtner J, Ludwig HC. ​Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept​. ​​Child's Nervous System. ​2019;​35​(5):​​833​-841​. ​doi:10.1007/s00381-019-04119-x. 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, et al. ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​. ​​Journal of Medical Genetics. ​2019;​56​(4):​​261​-264​. ​doi:10.1136/jmedgenet-2018-105470. 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Stumpf SK, Berghoff SA, Trevisiol A, Spieth L, Düking T, Schneider LV, et al. ​Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease​. ​​Acta Neuropathologica. ​2019;​138​(1):​​147​-161​. ​doi:10.1007/s00401-019-01985-2. 
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  • 2018 | Journal Article | 
    ​ ​Dreha-Kulaczewski S, Konopka M, Joseph A, Kollmeier J, Merboldt, Klaus-Dietmar, Ludwig, Hans-Christoph, et al. ​Respiration and the watershed of spinal CSF flow in humans​. ​​Scientific Reports. ​2018;​8​(1). ​doi:10.1038/s41598-018-23908-z. 
    ​Details  DOI 
  • 2017 | Journal Article | 
    ​ ​Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, et al. ​Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder​. ​​Nature Communications. ​2017;​8​(1). ​doi:10.1038/s41467-017-00932-7. 
    ​Details  DOI 
  • 2016 | Review | 
    ​ ​Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski SF, Henneke M, Gärtner J, et al. ​Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review​ [book review]. ​​BMC Neurology. ​2016;​16​. ​doi:10.1186/s12883-016-0602-7. 
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  • 2015 | Journal Article | Research Paper
    ​ ​Dreha-Kulaczewski SF, Joseph AA, Merboldt, Klaus-Dietmar, Ludwig, Hans-Christoph, Gärtner J, Frahm J. ​Inspiration Is the Major Regulator of Human CSF Flow​. ​​The Journal of neuroscience. ​2015;​35​(6):​​2485​-2491​. ​doi:10.1523/JNEUROSCI.3246-14.2015. 
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  • 2014 | Review
    ​ ​Pouwels PJW, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SCL, et al. ​Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects​ [book review]. ​​Annals of Neurology. ​2014;​76​(1):​​5​-19​. ​doi:10.1002/ana.24194. 
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  • 2013 | Journal Article | Research Paper
    ​ ​Hummel, Hannah-Maria, Brueck W, Dreha-Kulaczewski SF, Gärtner J, Wuerfel J. ​Pediatric onset multiple sclerosis: McDonald criteria 2010 and the contribution of spinal cord MRI​. ​​Multiple Sclerosis. ​2013;​19​(10):​​1330​-1335​. ​doi:10.1177/1352458513493033. 
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  • 2013 | Journal Article
    ​ ​Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, et al. ​A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females​. ​​JIMD reports. ​2013;​13​:​​91​-99​. ​doi:10.1007/8904_2013_261. 
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  • 2012 | Journal Article | Research Paper
    ​ ​Dreha-Kulaczewski SF, Brockmann K, Henneke M, Dechent P, Wilken B, Gärtner J, et al. ​Assessment of myelination in hypomyelinating disorders by quantitative MRI​. ​​Journal of Magnetic Resonance Imaging. ​2012;​36​(6):​​1329​-1338​. ​doi:10.1002/jmri.23774. 
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  • 2010 | Journal Article | Research Paper
    ​ ​Henneke M, Dreha-Kulaczewski SF, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, et al. ​In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency​. ​​NMR in Biomedicine. ​2010;​23​(5):​​441​-445​. ​doi:10.1002/nbm.1480. 
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  • 2009 | Journal Article | 
    ​ ​Dreha-Kulaczewski SF, Gaertner J, Helms G, Dechent P, Hofer S, Frahm J. ​Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis (vol 51, pg 113, 2009)​. ​​Neuroradiology. ​2009;​51​(10). ​doi:10.1007/s00234-009-0582-z. 
    ​Details  DOI  WoS 
  • 2009 | Journal Article | Research Paper | 
    ​ ​Dreha-Kulaczewski SF, Helms G, Dechent P, Hofer S, Gärtner J, Frahm J. ​Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis​. ​​Neuroradiology. ​2009;​51​(2):​​113​-121​. ​doi:10.1007/s00234-008-0470-y. 
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  • 2009 | Journal Article | Research Paper
    ​ ​Brockmann K, Groeschel S, Dreha-Kulaczewski SF, Reinhardt K, Gärtner J, Dechent P. ​Unilateral Dilation of Virchow-Robin Spaces in Early Childhood​. ​​Neuropediatrics. ​2009;​40​(5):​​234​-238​. ​doi:10.1055/s-0029-1246158. 
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  • 2008 | Journal Article | Research Paper
    ​ ​Dreha-Kulaczewski SF, Dechent P, Finsterbusch J, Brockmann K, Gärtner J, Frahm J, et al. ​Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study​. ​​Pediatric Research. ​2008;​63​(4):​​444​-449​. ​doi:10.1203/01.pdr.0000304934.90198.25. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper | 
    ​ ​Brockmann K, Dreha-Kulaczewski SF, Dechent P, Boennemann C, Helms G, Kyllerman M, et al. ​Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations​. ​​Journal of Neurology. ​2008;​255​(7):​​1049​-1058​. ​doi:10.1007/s00415-008-0847-1. 
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  • 2007 | Conference Abstract
    ​ ​Dreha-Kulaczewski SF, Dechent P, Helms G, Frahm J, Gärtner J, Brockmann K. ​Complete recovery of NAA reduction in white matter disorders demonstrated by proton MRS​. ​​European Journal of Pediatrics, 166(3).​2007-03-01​ - 2007-03-02​; ​​Max-Planck-Institute for Experimental Medicine, Göttingen. ​New York: ​Springer; ​2007.  p. 274​-274​. ​
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  • 2007 | Journal Article
    ​ ​Dreha-Kulaczewski S, Dechent P, Helms G, Frahm J, Gaertner J, Brockmann K. ​DO06 Complete recovery of NAA reduction in white matter disorders demonstrated by serial proton MRS​. ​​European Journal of Paediatric Neurology. ​2007;​11​:​​39​-39​. ​doi:10.1016/s1090-3798(08)70391-x. 
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  • 2006 | Journal Article | Research Paper
    ​ ​Dreha-Kulaczewski SF, Dechent P, Helms G, Frahm J, Gärtner J, Brockmann K. ​Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI​. ​​Neuroradiology. ​2006;​48​(12):​​893​-898​. ​doi:10.1007/s00234-006-0148-2. 
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