Dr. med. Stefanie Dreha-Kulaczewski

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  • 2022 Journal Article | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
    Details  DOI  PMID  PMC 
  • 2022 Journal Article | Research Paper | 
    ​ ​Deep breathing couples CSF and venous flow dynamics​
    Kollmeier, J. M.; Gürbüz-Reiss, L.; Sahoo, P.; Badura, S.; Ellebracht, B.; Keck, M. & Gärtner, J.  et al.​ (2022) 
    Scientific Reports12(1) art. 2568​.​ DOI: https://doi.org/10.1038/s41598-022-06361-x 
    Details  DOI 
  • 2021 Journal Article | 
    ​ ​Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales​
    Ludwig, H. C. ; Bock, H. C. ; Gärtner, J. ; Schiller, S. ; Frahm, J.   & Dreha-Kulaczewski, S. ​ (2021) 
    Neuropediatrics52(04) pp. 233​-241​.​ DOI: https://doi.org/10.1055/s-0041-1731981 
    Details  DOI 
  • 2020 Journal Article | Research Paper | 
    ​ ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​
    Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al.​ (2020) 
    Genetics in Medicine23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
    Details  DOI  PMID  PMC 
  • 2019 Journal Article
    ​ ​Breathing drives CSF: Impact on spaceflight disease and hydrocephalus​
    Ludwig, H.-C. ; Frahm, J. ; Gärtner, J.   & Dreha-Kulaczewski, S. ​ (2019) 
    Proceedings of the National Academy of Sciences116(41) pp. 20263​-20264​.​ DOI: https://doi.org/10.1073/pnas.1910305116 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Aktuelle Techniken der Magnetresonanztomographie in der Neuropädiatrie: ​Anwendungen für Diagnostik, perioperatives Management und Therapiekontrollen​
    Wilke, M.   & Dreha-Kulaczewski, S. ​ (2019) 
    Monatsschrift Kinderheilkunde167(4) pp. 308​-317​.​ DOI: https://doi.org/10.1007/s00112-019-0656-x 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept​
    Bock, H. C. ; Dreha-Kulaczewski, S. F. ; Alaid, A. ; Gärtner, J.   & Ludwig, H. C. ​ (2019) 
    Child's Nervous System35(5) pp. 833​-841​.​ DOI: https://doi.org/10.1007/s00381-019-04119-x 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​
    Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al.​ (2019) 
    Journal of Medical Genetics56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease​
    Stumpf, S. K.; Berghoff, S. A.; Trevisiol, A. ; Spieth, L.; Düking, T.; Schneider, L. V. & Schlaphoff, L. et al.​ (2019) 
    Acta Neuropathologica138(1) pp. 147​-161​.​ DOI: https://doi.org/10.1007/s00401-019-01985-2 
    Details  DOI  PMID  PMC 
  • 2018 Journal Article | 
    ​ ​Respiration and the watershed of spinal CSF flow in humans​
    Dreha-Kulaczewski, S. ; Konopka, M.; Joseph, A. A; Kollmeier, J.; Merboldt, K.-D.; Ludwig, H.-C.   & Gärtner, J.  et al.​ (2018) 
    Scientific Reports8(1).​ DOI: https://doi.org/10.1038/s41598-018-23908-z 
    Details  DOI 
  • 2017 Journal Article | 
    ​ ​Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder​
    Huppke, P. ; Weissbach, S. ; Church, J. A.; Schnur, R.; Krusen, M.; Dreha-Kulaczewski, S.   & Kühn-Velten, W. N. et al.​ (2017) 
    Nature Communications8(1) art. 818​.​ DOI: https://doi.org/10.1038/s41467-017-00932-7 
    Details  DOI 
  • 2016 Review | 
    ​ ​Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review​
    Kettwig, M.; Elpeleg, O.; Wegener, E.; Dreha-Kulaczewski, S. F. ; Henneke, M.; Gärtner, J.  & Huppke, P. ​ (2016)
    BMC Neurology, 16​.​
    Biomed Central Ltd. DOI: https://doi.org/10.1186/s12883-016-0602-7 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | Research Paper
    ​ ​Inspiration Is the Major Regulator of Human CSF Flow​
    Dreha-Kulaczewski, S. F. ; Joseph, A. A.; Merboldt, K.-D.; Ludwig, H.-C. ; Gärtner, J.   & Frahm, J. ​ (2015) 
    The Journal of neuroscience35(6) pp. 2485​-2491​.​ DOI: https://doi.org/10.1523/JNEUROSCI.3246-14.2015 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Review
    ​ ​Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects​
    Pouwels, P. J. W.; Vanderver, A.; Bernard, G.; Wolf, N. I.; Dreha-Kulczewksi, S. F. ; Deoni, S. C. L.& Bertini, E. et al.​ (2014)
    Annals of Neurology, 76​(1) pp. 5​-19​.​
    Wiley-blackwell. DOI: https://doi.org/10.1002/ana.24194 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ ​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​
    Dreha-Kulaczewski, S. ; Kalscheuer, V.; Tzschach, A.; Hu, H.; Helms, G.; Brockmann, K.   & Weddige, A.  et al.​ (2013) 
    JIMD reports13 pp. 91​-99​.​ DOI: https://doi.org/10.1007/8904_2013_261 
    Details  DOI  PMID  PMC 
  • 2013 Journal Article | Research Paper
    ​ ​Pediatric onset multiple sclerosis: McDonald criteria 2010 and the contribution of spinal cord MRI​
    Hummel, H.-M. ; Brueck, W. ; Dreha-Kulaczewski, S. F. ; Gärtner, J.   & Wuerfel, J.​ (2013) 
    Multiple Sclerosis19(10) pp. 1330​-1335​.​ DOI: https://doi.org/10.1177/1352458513493033 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Journal Article | Research Paper
    ​ ​Assessment of myelination in hypomyelinating disorders by quantitative MRI​
    Dreha-Kulaczewski, S. F. ; Brockmann, K. ; Henneke, M.; Dechent, P. ; Wilken, B.; Gärtner, J.   & Helms, G.​ (2012) 
    Journal of Magnetic Resonance Imaging36(6) pp. 1329​-1338​.​ DOI: https://doi.org/10.1002/jmri.23774 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article | Research Paper
    ​ ​In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency​
    Henneke, M.; Dreha-Kulaczewski, S. F. ; Brockmann, K. ; van der Graaf, M.; Willemsen, M. A.; Engelke, U. & Dechent, P.  et al.​ (2010) 
    NMR in Biomedicine23(5) pp. 441​-445​.​ DOI: https://doi.org/10.1002/nbm.1480 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | 
    ​ ​Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis (vol 51, pg 113, 2009)​
    Dreha-Kulaczewski, S. F. ; Gaertner, J. ; Helms, G.; Dechent, P. ; Hofer, S.   & Frahm, J. ​ (2009) 
    Neuroradiology51(10).​ DOI: https://doi.org/10.1007/s00234-009-0582-z 
    Details  DOI  WoS 
  • 2009 Journal Article | Research Paper | 
    ​ ​Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis​
    Dreha-Kulaczewski, S. F. ; Helms, G.; Dechent, P. ; Hofer, S. ; Gärtner, J.   & Frahm, J. ​ (2009) 
    Neuroradiology51(2) pp. 113​-121​.​ DOI: https://doi.org/10.1007/s00234-008-0470-y 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper
    ​ ​Unilateral Dilation of Virchow-Robin Spaces in Early Childhood​
    Brockmann, K. ; Groeschel, S.; Dreha-Kulaczewski, S. F. ; Reinhardt, K.; Gärtner, J.   & Dechent, P. ​ (2009) 
    Neuropediatrics40(5) pp. 234​-238​.​ DOI: https://doi.org/10.1055/s-0029-1246158 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper | 
    ​ ​Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations​
    Brockmann, K. ; Dreha-Kulaczewski, S. F. ; Dechent, P. ; Boennemann, C.; Helms, G.; Kyllerman, M. & Brueck, W.  et al.​ (2008) 
    Journal of Neurology255(7) pp. 1049​-1058​.​ DOI: https://doi.org/10.1007/s00415-008-0847-1 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Finsterbusch, J.; Brockmann, K. ; Gärtner, J. ; Frahm, J.   & Hanefeld, F. A.​ (2008) 
    Pediatric Research63(4) pp. 444​-449​.​ DOI: https://doi.org/10.1203/01.pdr.0000304934.90198.25 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Conference Abstract
    ​ ​Complete recovery of NAA reduction in white matter disorders demonstrated by proton MRS​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gärtner, J.   & Brockmann, K. ​ (2007)
    ​European Journal of Pediatrics, 166(3) pp. 274​-274. , Max-Planck-Institute for Experimental Medicine, Göttingen.
    New York​: Springer.
    Details  WoS 
  • 2007 Journal Article
    ​ ​DO06 Complete recovery of NAA reduction in white matter disorders demonstrated by serial proton MRS​
    Dreha-Kulaczewski, S. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gaertner, J.   & Brockmann, K. ​ (2007) 
    European Journal of Paediatric Neurology11 pp. 39​-39​.​ DOI: https://doi.org/10.1016/s1090-3798(08)70391-x 
    Details  DOI 
  • 2006 Journal Article | Research Paper
    ​ ​Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gärtner, J.   & Brockmann, K. ​ (2006) 
    Neuroradiology48(12) pp. 893​-898​.​ DOI: https://doi.org/10.1007/s00234-006-0148-2 
    Details  DOI  PMID  PMC  WoS 

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