Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Irene Skoula"'
Autor:
Ioannis Zaganas, Pelagia Vorgia, Martha Spilioti, Lambros Mathioudakis, Maria Raissaki, Stavroula Ilia, Melpomeni Giorgi, Irene Skoula, Georgios Chinitrakis, Kleita Michaelidou, Evangelos Paraskevoulakos, Olga Grafakou, Chariklia Kariniotaki, Thekla Psyllou, Spiros Zafeiris, Maria Tzardi, George Briassoulis, Argirios Dinopoulos, Panayiotis Mitsias, Athanasios Evangeliou
Publikováno v:
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100477- (2021)
We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2–18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, we
Externí odkaz:
https://doaj.org/article/026665cfc5734e56b69f7bb105f0ecb5
Autor:
Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula, Stefanos Ioannidis, Eirini Klothaki, Sophia Erimaki, Georgios Stavropoulos, Vassilios Vassilikos, Georgios Amoiridis, Georgios Efthimiadis, Athanasios Evangeliou, Panayiotis Mitsias
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100682- (2020)
Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presenta
Externí odkaz:
https://doaj.org/article/8d66614cb63c4b958b204823e3fff318
Autor:
Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, Miltiadis Tsilimbaris, Kleita Michaelidou, Lambros Mathioudakis, Anastasios Marinis, Emmanouil Giannakoudakis, Cleanthe Spanaki, Irene Skoula, Sofia Erimaki, Georgios Amoiridis, Georgios Koutsis, Sofia Koukouraki, Kostas Stylianou, Andreas Plaitakis, Panayiotis D. Mitsias, Ioannis Zaganas
Publikováno v:
Neurology. Genetics. 8(5)
Background and ObjectivesOur goal was to study hereditary transthyretin-related amyloidosis (hATTR) in Crete, Greece.MethodsWe aimed at ascertaining all hATTR cases in Crete, an island of 0.62 million people. For this, we evaluated patients with poly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9212bb23c9feac829a225e63c1c149
https://pubmed.ncbi.nlm.nih.gov/36101541
https://pubmed.ncbi.nlm.nih.gov/36101541
Autor:
Pelagia Vorgia, Ioannis Zaganas, Georgios Chinitrakis, Athanasios Evangeliou, Panayiotis Mitsias, E. Paraskevoulakos, Argirios Dinopoulos, Kleita Michaelidou, George Briassoulis, Maria Raissaki, Martha Spilioti, Chariklia Kariniotaki, M. Giorgi, Olga Grafakou, Irene Skoula, Stavroula Ilia, Spiros Zafeiris, Thekla Psyllou, Lambros Mathioudakis, Maria Tzardi
Publikováno v:
Epilepsy & Behavior Reports, Vol 16, Iss, Pp 100477-(2021)
We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2–18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2738ce310dc212eb8f70bba1b4898aa8
http://www.sciencedirect.com/science/article/pii/S2589986421000514
http://www.sciencedirect.com/science/article/pii/S2589986421000514
Autor:
Stefanos G. Ioannidis, Lambros Mathioudakis, Helen Latsoudis, Martha Spilioti, Konstantinos Notas, Sophia Erimaki, Panayiotis Mitsias, Kleita Michaelidou, Eirini Klothaki, Georgios Stavropoulos, Ioannis Zaganas, Georgios K. Efthimiadis, Vassilios Vassilikos, Dimitra Kotzamani, Konstantinos Dimitrakopoulos, Vasilios Mastorodemos, Athanasios Evangeliou, Irene Skoula, Georgios Amoiridis
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100682-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100682-(2020)
Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4b9823a6903175f0090991a563174d
https://pubmed.ncbi.nlm.nih.gov/33304817
https://pubmed.ncbi.nlm.nih.gov/33304817
Autor:
Georgia Xiromerisiou, Beate Ritz, Helen Latsoudis, Cleanthe Spanaki, Konstantinos Kanavouras, Andreas Plaitakis, Spyridon Papapetropoulos, Vasileios Mastorodemos, Nikolas Borompokas, Irene Skoula, Ioannis Zaganas, George Hadjigeorgiou, Jeff M. Bronstein
Publikováno v:
European Journal of Human Genetics. 18:336-341
Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental factors. Although the pathophys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c52a4d33183f589cec79243281cc6e14
https://doi.org/10.1038/ejhg.2009.179
https://doi.org/10.1038/ejhg.2009.179