Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

12 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: niotakis g. J Neuromuscul Dis. 2020;7(3):247-256. doi: 10.3233/JND-190466. J Neuromuscul Dis. 2020. PMID: 32417790 Free PMC article.
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.
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
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.
Acute idiopathic transverse myelitis in children: early predictors of relapse and disability.
Deiva K, Absoud M, Hemingway C, Hernandez Y, Hussson B, Maurey H, Niotakis G, Wassmer E, Lim M, Tardieu M; United Kingdom Childhood Inflammatory Demyelination (UK-CID) Study and French Kidbiosep Study. Deiva K, et al. Among authors: niotakis g. Neurology. 2015 Jan 27;84(4):341-9. doi: 10.1212/WNL.0000000000001179. Epub 2014 Dec 24. Neurology. 2015. PMID: 25540303
12 results