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Page 1
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Tzagournissakis M, Foukarakis E, Samonakis D, Tsilimbaris M, Michaelidou K, Mathioudakis L, Marinis A, Giannakoudakis E, Spanaki C, Skoula I, Erimaki S, Amoiridis G, Koutsis G, Koukouraki S, Stylianou K, Plaitakis A, Mitsias PD, Zaganas I. Tzagournissakis M, et al. Among authors: mathioudakis l. Neurol Genet. 2022 Sep 9;8(5):e200013. doi: 10.1212/NXG.0000000000200013. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36101541 Free PMC article.
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort.
Mathioudakis L, Dimovasili C, Bourbouli M, Latsoudis H, Kokosali E, Gouna G, Vogiatzi E, Basta M, Kapetanaki S, Panagiotakis S, Kanterakis A, Boumpas D, Lionis C, Plaitakis A, Simos P, Vgontzas A, Kafetzopoulos D, Zaganas I. Mathioudakis L, et al. Neurobiol Aging. 2023 Mar;123:111-128. doi: 10.1016/j.neurobiolaging.2022.07.002. Epub 2022 Jul 11. Neurobiol Aging. 2023. PMID: 36117051
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I, Mastorodemos V, Spilioti M, Mathioudakis L, Latsoudis H, Michaelidou K, Kotzamani D, Notas K, Dimitrakopoulos K, Skoula I, Ioannidis S, Klothaki E, Erimaki S, Stavropoulos G, Vassilikos V, Amoiridis G, Efthimiadis G, Evangeliou A, Mitsias P. Zaganas I, et al. Among authors: mathioudakis l. Mol Genet Metab Rep. 2020 Nov 30;25:100682. doi: 10.1016/j.ymgmr.2020.100682. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33304817 Free PMC article.
Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.
Bourbouli M, Paraskevas GP, Rentzos M, Mathioudakis L, Zouvelou V, Bougea A, Tychalas A, Kimiskidis VK, Constantinides V, Zafeiris S, Tzagournissakis M, Papadimas G, Karadima G, Koutsis G, Kroupis C, Kartanou C, Kapaki E, Zaganas I. Bourbouli M, et al. Among authors: mathioudakis l. Brain Sci. 2021 Sep 19;11(9):1239. doi: 10.3390/brainsci11091239. Brain Sci. 2021. PMID: 34573259 Free PMC article.
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: mathioudakis l. 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.
Cognitive Impairment and Dementia in Primary Care: Current Knowledge and Future Directions Based on Findings From a Large Cross-Sectional Study in Crete, Greece.
Bertsias A, Symvoulakis E, Tziraki C, Panagiotakis S, Mathioudakis L, Zaganas I, Basta M, Boumpas D, Simos P, Vgontzas A, Lionis C. Bertsias A, et al. Among authors: mathioudakis l. Front Med (Lausanne). 2020 Nov 23;7:592924. doi: 10.3389/fmed.2020.592924. eCollection 2020. Front Med (Lausanne). 2020. PMID: 33330553 Free PMC article.