Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Georgios Amoiridis"'
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:
Kleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, Dimitra Papadimitriou, Georgios Amoiridis, Alexandros Papadimitriou, Panayiotis Mitsias, Ioannis Zaganas
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Charcot–Marie–Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results Three
Externí odkaz:
https://doaj.org/article/2ac3737e5acc46f4b300053d24abc3df
Autor:
Katerina Karagiorgou, Maria Dandoulaki, Renato Mantegazza, Francesca Andreetta, Raffaello Furlan, Jon Lindstrom, Paraskevi Zisimopoulou, Elisabeth Chroni, Panagiotis Kokotis, Evangelos Anagnostou, Dimitrios Tzanetakos, Marianthi Breza, Zoe Katsarou, Georgios Amoiridis, Vasileios Mastorodemos, Marianna Bregianni, Anastasios Bonakis, Georgios Tsivgoulis, Konstantinos Voumvourakis, Socrates Tzartos, John Tzartos
Publikováno v:
Neurol Neuroimmunol Neuroinflamm
Background and ObjectivesAutoantibodies against α3-subunit–containing nicotinic acetylcholine receptors (α3-nAChRs), usually measured by radioimmunoprecipitation assay (RIPA), are detected in patients with autoimmune autonomic ganglionopathy (AAG
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
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
Autor:
Georgios Amoiridis, Panayiotis Mitsias, Alexandros Papadimitriou, Dimitra Papadimitriou, Sophia Erimaki, Ioannis Tsiverdis, Ioannis Zaganas, Kleita Michaelidou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Charcot–Marie–Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results Three patients
Publikováno v:
Neurology. 49:1725-1728
Although motor fibers in the sural nerve were already described in three individuals, this nerve is considered purely sensory. We investigated the occurrence of motor fibers in 331 sural nerves of 207 individuals. We found motor fibers in 15 nerves (
Publikováno v:
Clinical Neurology and Neurosurgery. 107:315-317
We report on a patient presenting with hypaesthesia in first, second and third finger of the right hand following a motorcycle accident. Conventional X-ray showed only a mild dislocation in C6/C7 segment. Cervical MRI in order to prove a root avulsio
Publikováno v:
Der Nervenarzt. 67:1023-1026
We report on two patients with severe rhabdomyolysis and peripheral nerve involvement after drug intoxication. Nerve conduction studies of the paretic extremities of both patients could be performed within 12 h of the onset. Several nerves revealed e
Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation
Publikováno v:
Scopus-Elsevier
OBJECTIVE: Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia with extensive phenotypic variability originally described in families of Portuguese ancestry. Recently, the mutation causing the disease has been identified as an exp