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Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D, Tilemis FN, Marinakis NM, Svingou M, Mitrakos A, Kosma K, Tsoutsou I, Makrythanasis P, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Vartzelis G, Dinopoulos A, Evangeliou A, Mouskou S, Korona A, Mastroyianni S, Papavasiliou A, Tzetis M, Pons R, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Among authors: vorgia p. Expert Rev Mol Diagn. 2023 Jan;23(1):85-103. doi: 10.1080/14737159.2023.2173578. Epub 2023 Feb 14. Expert Rev Mol Diagn. 2023. PMID: 36714946
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I, Vorgia P, Spilioti M, Mathioudakis L, Raissaki M, Ilia S, Giorgi M, Skoula I, Chinitrakis G, Michaelidou K, Paraskevoulakos E, Grafakou O, Kariniotaki C, Psyllou T, Zafeiris S, Tzardi M, Briassoulis G, Dinopoulos A, Mitsias P, Evangeliou A. Zaganas I, et al. Among authors: vorgia p. Epilepsy Behav Rep. 2021 Aug 27;16:100477. doi: 10.1016/j.ebr.2021.100477. eCollection 2021. Epilepsy Behav Rep. 2021. PMID: 34568804 Free PMC article.
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.
Kekou K, Svingou M, Sofocleous C, Mourtzi N, Nitsa E, Konstantinidis G, Youroukos S, Skiadas K, Katsalouli M, Pons R, Papavasiliou A, Kotsalis C, Pavlou E, Evangeliou A, Katsarou E, Voudris K, Dinopoulos A, Vorgia P, Niotakis G, Diamantopoulos N, Nakou I, Koute V, Vartzelis G, Papadimas GK, Papadopoulos C, Tsivgoulis G, Traeger-Synodinos J. Kekou K, et al. Among authors: vorgia p. J Neuromuscul Dis. 2020;7(3):247-256. doi: 10.3233/JND-190466. J Neuromuscul Dis. 2020. PMID: 32417790 Free PMC article.
Tolosa-Hunt Syndrome: Clinical Manifestations in Children.
Tsirigotaki M, Ntoulios G, Lioumpas M, Voutoufianakis S, Vorgia P. Tsirigotaki M, et al. Among authors: vorgia p. Pediatr Neurol. 2019 Oct;99:60-63. doi: 10.1016/j.pediatrneurol.2019.02.013. Epub 2019 Feb 20. Pediatr Neurol. 2019. PMID: 30982655 Review.
32 results