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TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome.
Steinkellner H, Kempaiah P, Beribisky AV, Pferschy S, Etzler J, Huber A, Sarne V, Neuhaus W, Kuttke M, Bauer J, Arunachalam JP, Christodoulou J, Dressel R, Mildner A, Prinz M, Laccone F. Steinkellner H, et al. Among authors: christodoulou j. Int J Biol Macromol. 2022 Jun 1;209(Pt A):972-983. doi: 10.1016/j.ijbiomac.2022.04.080. Epub 2022 Apr 20. Int J Biol Macromol. 2022. PMID: 35460749
Rett syndrome: clinical review and genetic update.
Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Weaving LS, et al. Among authors: christodoulou j. J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730. J Med Genet. 2005. PMID: 15635068 Free PMC article. Review.
Rett syndrome: new clinical and molecular insights.
Williamson SL, Christodoulou J. Williamson SL, et al. Among authors: christodoulou j. Eur J Hum Genet. 2006 Aug;14(8):896-903. doi: 10.1038/sj.ejhg.5201580. Eur J Hum Genet. 2006. PMID: 16865103 Review.
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. Hardwick SA, et al. Among authors: christodoulou j. Eur J Hum Genet. 2007 Dec;15(12):1218-29. doi: 10.1038/sj.ejhg.5201911. Epub 2007 Aug 22. Eur J Hum Genet. 2007. PMID: 17712354
Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H. Bebbington A, et al. Among authors: christodoulou j. J Med Genet. 2010 Apr;47(4):242-8. doi: 10.1136/jmg.2009.072553. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914908 Free PMC article.
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Among authors: christodoulou j. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747
567 results