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Epileptic spasms with terror during sleep in CDKL5 encephalopathy.
Melikishvili G, Sharkov A, Gachechiladze T, Tomenko T, Pivovarova A, Volkov I, Andrade MT, Castellanos A, Bienvenu T, Dulac O, Roisman G, Gataullina S. Melikishvili G, et al. Among authors: sharkov a. Sleep Adv. 2022 Apr 20;3(1):zpac010. doi: 10.1093/sleepadvances/zpac010. eCollection 2022. Sleep Adv. 2022. PMID: 37193389 Free PMC article.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Nagy D, et al. Among authors: sharkov a. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154. Genes (Basel). 2022. PMID: 35052493 Free PMC article.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. Gregor A, et al. Among authors: sharkov a. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. Hum Mol Genet. 2022. PMID: 34505148 Free PMC article.
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. Tran Mau-Them F, et al. Among authors: sharkov a. Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31. Genet Med. 2019. PMID: 30166628 Free article.
33 results