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Year Number of Results
2006 1
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2009 3
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2012 1
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2015 1
2016 1
2017 2
2018 2
2019 6
2020 1
2021 4
2022 3
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2024 5

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34 results

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Page 1
Mutations in TAF8 cause a neurodegenerative disorder.
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Wong KM, et al. Among authors: dreha kulaczewski s. Brain. 2022 Sep 14;145(9):3022-3034. doi: 10.1093/brain/awac154. Brain. 2022. PMID: 35759269 Review.
Deep breathing couples CSF and venous flow dynamics.
Kollmeier JM, Gürbüz-Reiss L, Sahoo P, Badura S, Ellebracht B, Keck M, Gärtner J, Ludwig HC, Frahm J, Dreha-Kulaczewski S. Kollmeier JM, et al. Among authors: dreha kulaczewski s. Sci Rep. 2022 Feb 16;12(1):2568. doi: 10.1038/s41598-022-06361-x. Sci Rep. 2022. PMID: 35173200 Free PMC article.
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber MK, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G, Wollnik B. Schmidt J, et al. Among authors: dreha kulaczewski s. Front Cell Dev Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36467423 Free PMC article.
Paediatric pineal region cysts: enigma or impaired neurofluid system?
Ludwig HC, Dreha-Kulaczewski S, Bock HC. Ludwig HC, et al. Among authors: dreha kulaczewski s. Childs Nerv Syst. 2023 Dec;39(12):3457-3466. doi: 10.1007/s00381-023-06000-4. Epub 2023 Jun 1. Childs Nerv Syst. 2023. PMID: 37261536 Free PMC article.
Breathing drives CSF: Impact on spaceflight disease and hydrocephalus.
Ludwig HC, Frahm J, Gärtner J, Dreha-Kulaczewski S. Ludwig HC, et al. Among authors: dreha kulaczewski s. Proc Natl Acad Sci U S A. 2019 Oct 8;116(41):20263-20264. doi: 10.1073/pnas.1910305116. Epub 2019 Sep 17. Proc Natl Acad Sci U S A. 2019. PMID: 31530729 Free PMC article. No abstract available.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K. Schröder S, et al. Among authors: dreha kulaczewski s. Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7. Genet Med. 2021. PMID: 33024317 Free PMC article.
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, Henneke M, Höhne W, Altmüller J, Thiele H, Nürnberg P, Rakus D, Gärtner J, Huppke P. Gizak A, et al. Among authors: dreha kulaczewski s. Brain Commun. 2021 Mar 11;3(2):fcab036. doi: 10.1093/braincomms/fcab036. eCollection 2021. Brain Commun. 2021. PMID: 33977262 Free PMC article.
34 results