Dr. med. Stefanie Dreha-Kulaczewski

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unigoe
 

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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 Biology, 10.​ 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 Reports, 12(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) 
    Neuropediatrics, 52(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 Medicine, 23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
    ​Details  DOI  PMID  PMC 
  • 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 Neuropathologica, 138(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 Reports, 8(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 Communications, 8(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 
  • 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) 
    Neuroradiology, 51(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) 
    Neuroradiology, 51(2) pp. 113​-121​.​ DOI: https://doi.org/10.1007/s00234-008-0470-y 
    ​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 Neurology, 255(7) pp. 1049​-1058​.​ DOI: https://doi.org/10.1007/s00415-008-0847-1 
    ​Details  DOI  PMID  PMC  WoS 

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