Dr. med. Stefanie Dreha-Kulaczewski

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unigoe
 

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  • 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
    ​ ​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 Genetics, 56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    ​Details  DOI 
  • 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 reports, 13 pp. 91​-99​.​ DOI: https://doi.org/10.1007/8904_2013_261 
    ​Details  DOI  PMID  PMC 
  • 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 Imaging, 36(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 Biomedicine, 23(5) pp. 441​-445​.​ DOI: https://doi.org/10.1002/nbm.1480 
    ​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) 
    Neuropediatrics, 40(5) pp. 234​-238​.​ DOI: https://doi.org/10.1055/s-0029-1246158 
    ​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 Research, 63(4) pp. 444​-449​.​ DOI: https://doi.org/10.1203/01.pdr.0000304934.90198.25 
    ​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 
  • 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 Neurology, 11 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) 
    Neuroradiology, 48(12) pp. 893​-898​.​ DOI: https://doi.org/10.1007/s00234-006-0148-2 
    ​Details  DOI  PMID  PMC  WoS 

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