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Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group. Djémié T, et al. Among authors: usluer s. Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27465585 Free PMC article.
Possible role of SCN4A skeletal muscle mutation in apnea during seizure.
Türkdoğan D, Matthews E, Usluer S, Gündoğdu A, Uluç K, Mannikko R, Hanna MG, Sisodiya SM, Çağlayan HS. Türkdoğan D, et al. Among authors: usluer s. Epilepsia Open. 2019 Jul 1;4(3):498-503. doi: 10.1002/epi4.12347. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440732 Free PMC article.
Disordered regions mediate the interaction of p53 and MRE11.
Usluer S, Galhuber M, Khanna Y, Bourgeois B, Spreitzer E, Michenthaler H, Prokesch A, Madl T. Usluer S, et al. Biochim Biophys Acta Mol Cell Res. 2024 Feb;1871(2):119654. doi: 10.1016/j.bbamcr.2023.119654. Epub 2023 Dec 19. Biochim Biophys Acta Mol Cell Res. 2024. PMID: 38123020 Free article.
Fasting improves therapeutic response in hepatocellular carcinoma through p53-dependent metabolic synergism.
Krstic J, Reinisch I, Schindlmaier K, Galhuber M, Riahi Z, Berger N, Kupper N, Moyschewitz E, Auer M, Michenthaler H, Nössing C, Depaoli MR, Ramadani-Muja J, Usluer S, Stryeck S, Pichler M, Rinner B, Deutsch AJA, Reinisch A, Madl T, Chiozzi RZ, Heck AJR, Huch M, Malli R, Prokesch A. Krstic J, et al. Among authors: usluer s. Sci Adv. 2022 Jan 21;8(3):eabh2635. doi: 10.1126/sciadv.abh2635. Epub 2022 Jan 21. Sci Adv. 2022. PMID: 35061544 Free PMC article.
18 results