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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: theodorou e. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: theodorou e. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Identification of novel mRNAs and lncRNAs associated with mouse experimental colitis and human inflammatory bowel disease.
Rankin CR, Theodorou E, Man Law IK, Rowe L, Kokkotou E, Pekow J, Wang J, Martín MG, Pothoulakis C, Padua D. Rankin CR, et al. Among authors: theodorou e. Am J Physiol Gastrointest Liver Physiol. 2018 Nov 1;315(5):G722-G733. doi: 10.1152/ajpgi.00077.2018. Epub 2018 Jun 28. Am J Physiol Gastrointest Liver Physiol. 2018. PMID: 29953254 Free PMC article.
Assessment of quality of life, job insecurity and work ability among nurses, working either under temporary or permanent terms.
Katsaouni M, Tripsianis G, Constantinidis T, Vadikolias K, Kontogiorgis C, Serdari A, Arvaniti A, Theodorou E, Nena E. Katsaouni M, et al. Among authors: theodorou e. Int J Occup Med Environ Health. 2024 Mar 5;37(1):98-109. doi: 10.13075/ijomeh.1896.02245. Epub 2024 Jan 19. Int J Occup Med Environ Health. 2024. PMID: 38240653 Free PMC article.
Temporal trends in laboratory parameters in survivors and non‑survivors of critical COVID‑19 illness and the effect of dexamethasone treatment.
Kokkoris S, Kanavou A, Katsaros D, Karageorgiou S, Kremmydas P, Gkoufa A, Ntaidou T, Giannopoulos C, Kardamitsi MA, Dimopoulou G, Theodorou E, Georgakopoulou VE, Spandidos DA, Orfanos S, Kotanidou A, Routsi C. Kokkoris S, et al. Among authors: theodorou e. Biomed Rep. 2023 Nov 28;20(1):12. doi: 10.3892/br.2023.1700. eCollection 2024 Jan. Biomed Rep. 2023. PMID: 38124763 Free PMC article.
Enhancement of endogenous midbrain neurogenesis by microneurotrophin BNN-20 after neural progenitor grafting in a mouse model of nigral degeneration.
Mourtzi T, Antoniou N, Dimitriou C, Gkaravelas P, Athanasopoulou G, Kostantzo PN, Stathi O, Theodorou E, Anesti M, Matsas R, Angelatou F, Kouroupi G, Kazanis I. Mourtzi T, et al. Among authors: theodorou e. Neural Regen Res. 2024 Jun 1;19(6):1318-1324. doi: 10.4103/1673-5374.385314. Epub 2023 Sep 22. Neural Regen Res. 2024. PMID: 37905881 Free article. No abstract available.
96 results