Steffi Dreha-Kulaczewski
Overview
Explore the profile of Steffi Dreha-Kulaczewski including associated specialties, affiliations and a list of published articles.
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27
Citations
609
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Recent Articles
1.
Kohler C, Kuntke P, Sahoo P, Wahl H, Deoni S, Gartner J, et al.
Hum Brain Mapp
. 2024 Sep;
45(13):e70014.
PMID: 39230009
Pelizaeus-Merzbacher disease (PMD) is a rare childhood hypomyelinating leukodystrophy. Quantification of the pronounced myelin deficit and delineation of subtle myelination processes are of high clinical interest. Quantitative magnetic resonance imaging...
2.
Marten L, Kratzner R, Salomons G, Fernandez Ojeda M, Dechent P, Gartner J, et al.
Mol Genet Metab Rep
. 2024 Mar;
38:101053.
PMID: 38469086
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficiency syndromes. Cerebral creatine depletion and accumulation of guanidinoacetate (GAA) lead to clinical presentation with intellectual...
3.
Schmidt J, Kaulfuss S, Ott H, Gaubert M, Reintjes N, Bremmer F, et al.
Hum Genet
. 2024 Jan;
143(2):159-168.
PMID: 38265560
The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family, FGFR2 is a key regulator in many biological processes, e.g., cell...
4.
Sahoo P, Kollmeier J, Wenkel N, Badura S, Gartner J, Frahm J, et al.
Childs Nerv Syst
. 2024 Jan;
40(5):1377-1388.
PMID: 38206441
Purpose: In vivo measurements of CSF and venous flow using real-time phase-contrast (RT-PC) MRI facilitate new insights into the dynamics and physiology of both fluid systems. In clinical practice, however,...
5.
Dreha-Kulaczewski S, Sahoo P, Preusse M, Gkalimani I, Dechent P, Helms G, et al.
J Inherit Metab Dis
. 2024 Jan;
47(2):387-403.
PMID: 38200656
Cerebral folate transport deficiency, caused by a genetic defect in folate receptor α, is a devastating neurometabolic disorder that, if untreated, leads to epileptic encephalopathy, psychomotor decline and hypomyelination. Currently,...
6.
Ludwig H, Dreha-Kulaczewski S, Bock H
Childs Nerv Syst
. 2023 Jun;
39(12):3457-3466.
PMID: 37261536
Purpose: Pineal region cysts (PCs) may affect the tectum and aqueduct and cause deep central vein congestion. Beside headaches, PC often causes a broad range of symptoms, leading to prolonged...
7.
Somatic mosaicism in -associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
Schmidt J, Dreha-Kulaczewski S, Zafeiriou M, Schreiber M, Wilken B, Funke R, et al.
Front Cell Dev Biol
. 2022 Dec;
10:1025332.
PMID: 36467423
STAG2 is a component of the large, evolutionarily highly conserved cohesin complex, which has been linked to various cellular processes like genome organization, DNA replication, gene expression, heterochromatin formation, sister...
8.
Wong K, Jepsen W, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, et al.
Brain
. 2022 Jun;
145(9):3022-3034.
PMID: 35759269
TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription...
9.
Kollmeier J, Gurbuz-Reiss L, Sahoo P, Badura S, Ellebracht B, Keck M, et al.
Sci Rep
. 2022 Feb;
12(1):2568.
PMID: 35173200
Venous system pathologies have increasingly been linked to clinically relevant disorders of CSF circulation whereas the exact coupling mechanisms still remain unknown. In this work, flow dynamics of both systems...
10.
Ludwig H, Dreha-Kulaczewski S, Bock H
J Neurosci Res
. 2021 Jul;
99(11):2804-2821.
PMID: 34323313
With the advent of real-time MRI, the motion and passage of cerebrospinal fluid can be visualized without gating and exclusion of low-frequency waves. This imaging modality gives insights into low-volume,...