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Page 1
Acute life threatening cerebellitis presenting with no apparent cerebellar signs.
Hacohen Y, Niotakis G, Aujla A, Siddiqui A, McCormick D, Bassi S, Clarke A, Lim M. Hacohen Y, et al. Among authors: niotakis g. Clin Neurol Neurosurg. 2011 Dec;113(10):928-30. doi: 10.1016/j.clineuro.2011.06.014. Epub 2011 Jul 27. Clin Neurol Neurosurg. 2011. PMID: 21798661 No abstract available.
Abnormal gait and hypoglycorrhachia in a toddler with seizures.
Angeli M, Vergadi E, Niotakis G, Raissaki M, Galanakis E. Angeli M, et al. Among authors: niotakis g. Pediatr Investig. 2022 Feb 21;6(1):47-49. doi: 10.1002/ped4.12311. eCollection 2022 Mar. Pediatr Investig. 2022. PMID: 35382425 Free PMC article.
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, Mullins JGL, Pilz DT, Fry AE. Gardner JF, et al. Among authors: niotakis g. Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145. Brain Sci. 2018. PMID: 30087272 Free PMC article.
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
Veltra D, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Tsaprouni T, Pons R, Kosma K, Kampouraki A, Tsoutsou I, Makrythanasis P, Kekou K, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Among authors: niotakis g. Int J Mol Sci. 2024 May 22;25(11):5644. doi: 10.3390/ijms25115644. Int J Mol Sci. 2024. PMID: 38891831 Free PMC article.
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: niotakis g. 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
Aldolase A deficiency: Report of new cases and literature review.
Papadopoulos C, Svingou M, Kekou K, Vergnaud S, Xirou S, Niotakis G, Papadimas GK. Papadopoulos C, et al. Among authors: niotakis g. Mol Genet Metab Rep. 2021 Feb 23;27:100730. doi: 10.1016/j.ymgmr.2021.100730. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33665120 Free PMC article.
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