Author Dreha-Kulaczewski, Steffi
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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.
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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