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Page 1
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Pfeifer M, Rehder H, Gerykova Bujalkova M, Bartsch C, Fritz B, Knopp C, Beckers B, Dohle F, Meyer-Wittkopf M, Axt-Fliedner R, Beribisky AV, Hofer M, Laccone F, Schoner K. Pfeifer M, et al. Among authors: beribisky av. Orphanet J Rare Dis. 2024 Mar 12;19(1):114. doi: 10.1186/s13023-024-03106-z. Orphanet J Rare Dis. 2024. PMID: 38475835 Free PMC article.
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.
Steinkellner H, Beribisky AV, Mausberg P, Christodoulou J, Scheiber-Mojdehkar B, Huber A, Sarne V, Laccone F. Steinkellner H, et al. Among authors: beribisky av. J Vis Exp. 2020 May 22;(159). doi: 10.3791/61054. J Vis Exp. 2020. PMID: 32510486
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: beribisky av. 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
Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method.
Huber A, Sarne V, Beribisky AV, Ackerbauer D, Derdak S, Madritsch S, Etzler J, Huck S, Scholze P, Gorgulu I, Christodoulou J, Studenik CR, Neuhaus W, Connor B, Laccone F, Steinkellner H. Huber A, et al. Among authors: beribisky av. Stem Cells Dev. 2024 Mar;33(5-6):128-142. doi: 10.1089/scd.2023.0233. Epub 2024 Feb 22. Stem Cells Dev. 2024. PMID: 38164119
Translational repression of thymidylate synthase by targeting its mRNA.
Garg D, Beribisky AV, Ponterini G, Ligabue A, Marverti G, Martello A, Costi MP, Sattler M, Wade RC. Garg D, et al. Among authors: beribisky av. Nucleic Acids Res. 2013 Apr;41(7):4159-70. doi: 10.1093/nar/gkt098. Epub 2013 Feb 18. Nucleic Acids Res. 2013. PMID: 23423353 Free PMC article.
12 results