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A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
Confino S, Wexler Y, Medvetzky A, Elazary Y, Ben-Moshe Z, Reiter J, Dor T, Edvardson S, Prag G, Harel T, Gothilf Y. Confino S, et al. Among authors: dor t. Dis Model Mech. 2024 Aug 1;17(8):dmm050746. doi: 10.1242/dmm.050746. Epub 2024 Aug 27. Dis Model Mech. 2024. PMID: 39189071 Free PMC article.
Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.
Molnar MJ, Szabó L, Vladacenco OA, Cobzaru AM, Dor T, Dori A, Papadimas G, Juříková L, Litvinenko I, Tournev I, Dixon C. Molnar MJ, et al. Among authors: dor t. Orphanet J Rare Dis. 2024 Jul 9;19(1):260. doi: 10.1186/s13023-024-03270-2. Orphanet J Rare Dis. 2024. PMID: 38982500 Free PMC article.
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Confino S, Dor T, Tovin A, Wexler Y, Ben-Moshe Livne Z, Kolker M, Pisanty O, Park SK, Geyer N, Reiter J, Edvardson S, Mor-Shaked H, Elpeleg O, Vallone D, Appelbaum L, Foulkes NS, Gothilf Y. Confino S, et al. Among authors: dor t. Int J Mol Sci. 2022 Feb 21;23(4):2373. doi: 10.3390/ijms23042373. Int J Mol Sci. 2022. PMID: 35216494 Free PMC article.
Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy.
Tsabari R, Simchovitz E, Lavi E, Eliav O, Avrahami R, Ben-Sasson S, Dor T. Tsabari R, et al. Among authors: dor t. Neuromuscul Disord. 2021 Sep;31(9):803-813. doi: 10.1016/j.nmd.2021.05.005. Epub 2021 Jun 5. Neuromuscul Disord. 2021. PMID: 34304968 Clinical Trial.
Monitoring liver damage using hepatocyte-specific methylation markers in cell-free circulating DNA.
Lehmann-Werman R, Magenheim J, Moss J, Neiman D, Abraham O, Piyanzin S, Zemmour H, Fox I, Dor T, Grompe M, Landesberg G, Loza BL, Shaked A, Olthoff K, Glaser B, Shemer R, Dor Y. Lehmann-Werman R, et al. Among authors: dor t. JCI Insight. 2018 Jun 21;3(12):e120687. doi: 10.1172/jci.insight.120687. eCollection 2018 Jun 21. JCI Insight. 2018. PMID: 29925683 Free PMC article.
27 results