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Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: kreuz fr. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591
SHMT2 inhibition disrupts the TCF3 transcriptional survival program in Burkitt lymphoma.
Wilke AC, Doebele C, Zindel A, Lee KS, Rieke SA, Ceribelli M, Comoglio F, Phelan JD, Wang JQ, Pikman Y, Jahn D, Häupl B, Schneider C, Scheich S, Tosto FA, Bohnenberger H, Stauder P, Schnütgen F, Slabicki M, Coulibaly ZA, Wolf S, Bojarczuk K, Chapuy B, Brandts CH, Stroebel P, Lewis CA, Engelke M, Xu X, Kim H, Dang TH, Schmitz R, Hodson DJ, Stegmaier K, Urlaub H, Serve H, Schmitt CA, Kreuz F, Knittel G, Rabinowitz JD, Reinhardt HC, Vander Heiden MG, Thomas C, Staudt LM, Zenz T, Oellerich T. Wilke AC, et al. Among authors: kreuz f. Blood. 2022 Jan 27;139(4):538-553. doi: 10.1182/blood.2021012081. Blood. 2022. PMID: 34624079 Free PMC article.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. Bürk K, et al. Among authors: kreuz fr. Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486772
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Among authors: kreuz f. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.
[Clinical details and genetics of recessive ataxias].
Zühlke C, Kreuz F, Bürk K. Zühlke C, et al. Among authors: kreuz f. Nervenarzt. 2011 Apr;82(4):447-8, 450-8. doi: 10.1007/s00115-010-3079-4. Nervenarzt. 2011. PMID: 20640395 Review. German.
42 results