Author Dreha-Kulaczewski, Steffi

• 2009 | Journal Article | 
  ​ ​Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism​
  Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S.; Helms, G.; Dechent, P. & Wevers, R. et al.​ (2009) 
  The American Journal of Human Genetics, 85 pp. 354​-363​.​ DOI: https://doi.org/10.1016/j.ajhg.2009.08.005. 
  ​Details  DOI 

• 2017 | Journal Article
  ​ ​Identification of the Upward Movement of Human CSF In Vivo and its Relation to the Brain Venous System​
  Dreha-Kulaczewski, S.; Joseph, A. A.; Merboldt, K.-D.; Ludwig, H.-C.; Gärtner, J.   & Frahm, J.​ (2017) 
  The Journal of Neuroscience, 37(9) pp. 2395​-2402​.​ DOI: https://doi.org/10.1523/JNEUROSCI.2754-16.2017 
  ​Details  DOI 

• 2019 | Journal Article | 
  ​ ​Spinal CSF flow in response to forced thoracic and abdominal respiration​
  Aktas, G.; Kollmeier, J. M.; Joseph, A. A.; Merboldt, K.-D.; Ludwig, H.-C.; Gärtner, J.   & Frahm, J.  et al.​ (2019) 
  Fluids and Barriers of the CNS, 16(1) art. 10​.​ DOI: https://doi.org/10.1186/s12987-019-0130-0 
  ​Details  DOI  PMID  PMC 

• 2019 | Journal Article | Erratum | 
  ​ ​Correction to: 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(4) pp. 673​-674​.​ DOI: https://doi.org/10.1007/s00401-019-02064-2 
  ​Details  DOI  PMID  PMC 

• 2021 | Journal Article | Research Paper | 
  ​ ​A novel remitting leukodystrophy associated with a variant in FBP2​
  Gizak, A.; Diegmann, S.; Dreha-Kulaczewski, S.; Wiśniewski, J.; Duda, P.; Ohlenbusch, A. & Huppke, B. et al.​ (2021) 
  Brain Communications, 3(2) pp. fcab036​.​ DOI: https://doi.org/10.1093/braincomms/fcab036 
  ​Details  DOI  PMID  PMC 

• 2022 | Journal Article
  ​ ​Mutations in TAF8 cause a neurodegenerative disorder​
  Wong, K. M.; Jepsen, W. M; Efthymiou, S.; Salpietro, V.; Sanchez-Castillo, M.; Yip, J. & Kriouile, Y. et al.​ (2022) 
  Brain, art. awac154​.​ DOI: https://doi.org/10.1093/brain/awac154 
  ​Details  DOI 

• 2023 | Journal Article | 
  ​ ​Paediatric pineal region cysts: enigma or impaired neurofluid system?​
  Ludwig, H. C.; Dreha-Kulaczewski, S. & Bock, H. C.​ (2023) 
  Child's Nervous System,.​ DOI: https://doi.org/10.1007/s00381-023-06000-4 
  ​Details  DOI 

• 2024 | Journal Article
  ​ ​Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes​
  Schmidt, J.; Kaulfuß, S.; Ott, H.; Gaubert, M.; Reintjes, N.; Bremmer, F. & Dreha-Kulaczewski, S. et al.​ (2024) 
  Human Genetics,.​ DOI: https://doi.org/10.1007/s00439-023-02634-1 
  ​Details  DOI  PMID  PMC 

• 2024 | Journal Article
  ​ ​Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach​
  Dreha-Kulaczewski, S.; Sahoo, P.; Preusse, M.; Gkalimani, I.; Dechent, P.; Helms, G. & Hofer, S. et al.​ (2024) 
  Journal of Inherited Metabolic Disease,.​ DOI: https://doi.org/10.1002/jimd.12713 
  ​Details  DOI  PMID  PMC 

• 2024 | Journal Article
  ​ ​CSF and venous blood flow from childhood to adulthood studied by real-time phase-contrast MRI​
  Sahoo, P.; Kollmeier, J. M.; Wenkel, N.; Badura, S.; Gärtner, J.; Frahm, J. & Dreha-Kulaczewski, S.​ (2024) 
  Child's Nervous System,.​ DOI: https://doi.org/10.1007/s00381-024-06275-1 
  ​Details  DOI  PMID  PMC 

• 2024 | Journal Article | 
  ​ ​Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data​
  Marten, L. M; Krätzner, R.; Salomons, G. S; Fernandez Ojeda, M.; Dechent, P.; Gärtner, J. & Huppke, P. et al.​ (2024) 
  Molecular Genetics and Metabolism Reports, 38 pp. 101053​.​ DOI: https://doi.org/10.1016/j.ymgmr.2024.101053 
  ​Details  DOI  PMID  PMC 

Researcher

Sort

Items per Page