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dc.contributor.author | Sokratous, Maria | |
dc.contributor.author | Schottlaender, Lucía V. | |
dc.contributor.author | Bourinaris, Thomas | |
dc.contributor.author | Marogianni, Chrysoula | |
dc.contributor.author | Arnaoutoglou, Marianthi | |
dc.contributor.author | Patrikiou, Eleni | |
dc.contributor.author | Ralli, Styliani | |
dc.contributor.author | Markou, Aikaterini | |
dc.contributor.author | Dardiotis, Efthimios | |
dc.contributor.author | Houlden, Henry | |
dc.contributor.author | Hadjigeorgiou, Georgios M. | |
dc.contributor.author | Xiromerisiou, Georgia | |
dc.date.accessioned | 2021-01-27T15:03:29Z | |
dc.date.available | 2021-01-27T15:03:29Z | |
dc.date.issued | 2020-07 | |
dc.identifier.citation | Sokratous, M., Schottlaender, L., Bourinaris, T., Marogianni, C., Arnaoutoglou, M., Patrikiou, E., Ralli, S., Markou, A., Dardiotis, E., Houlden, H., Hadjigeorgiou, G.M., Xiromerisiou, G., 2020. Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS. Amyotroph Lateral Scler Frontotemporal Degener 1–3. https://doi.org/10.1080/21678421.2020.1757115 | en_US |
dc.identifier.uri | https://repositorio.fleni.org.ar/handle/123456789/346 | |
dc.identifier.uri | https://doi.org/10.1080/21678421.2020.1757115 | |
dc.description.abstract | A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the G4C2 repeats expansions. In the studied sALS patients, 5.06% (n = 9) carried the C9orf72 mutation. Among carriers, 2/3 of them were females and spinal onset accounted for 78% and bulbar for 22%, while the mean age of onset was about 60 years. Our study showed that the prevalence of C9orf72 repeat expansion in Greek sALS patients is similar to the overall frequency of the mutation in European populations. The pathogenic mutation remains a promising biomarker for genetic testing and targeted treatment. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Taylor & Francis | en_US |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights.uri | https://creativecommons.org/licenses/by/2.5/ar/ | |
dc.subject | Amyotrophic Lateral Sclerosis | en_US |
dc.subject | Esclerosis Amiotrófica Lateral | en_US |
dc.subject | C9orf72 Protein | en_US |
dc.subject | Proteína C9orf72 | en_US |
dc.title | Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS | en_US |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.type | info:eu-repo/semantics/article | en_US |
dc.description.fil | Fil: Sokratous, Maria. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. | |
dc.description.fil | Fil: Schottlaender, Lucía V. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fleni. Departamento de Neurología; Argentina. | |
dc.description.fil | Fil: Bourinaris, Thomas. UCL Institute of Neurology. Department of Molecular Neuroscience; Reino Unido. | |
dc.description.fil | Fil: Marogianni, Chrysoula. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. | |
dc.description.fil | Fil: Arnaoutoglou, Marianthi. AHEPA Hospital. First Neurology Clinic; Grecia. Aristotle University of Thessaloniki. Faculty of Health Sciences. School of Medicine; Grecia. | |
dc.description.fil | Fil: Patrikiou, Eleni. University of Thessaly. Faculty of Medicine. Faculty of Medicine School of Health Sciences. Department of Rheumatology and Clinical Immunology; Grecia. | |
dc.description.fil | Fil: Ralli, Styliani. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. | |
dc.description.fil | Fil: Markou, Aikaterini. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. | |
dc.description.fil | Fil: Dardiotis, Efthimios. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. | |
dc.description.fil | Fil: Houlden, Henry. UCL Institute of Neurology. Department of Molecular Neuroscience; Reino Unido. | |
dc.description.fil | Fil: Hadjigeorgiou, Georgios M. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. Medical School, University of Cyprus. Department of Neurology; Chipre. | |
dc.description.fil | Fil: Xiromerisiou, Georgia. Medical School, University of Cyprus. Department of Neurology; Chipre. | |
dc.relation.ispartofVOLUME | 21 | |
dc.relation.ispartofNUMBER | 5-6 | |
dc.relation.ispartofPAGINATION | 470-472. | |
dc.relation.ispartofCOUNTRY | Inglaterra | |
dc.relation.ispartofCITY | Oxford | |
dc.relation.ispartofTITLE | Amyotrophic lateral sclerosis & frontotemporal degeneration | |
dc.relation.ispartofISSN | 2167-9223 | |
dc.type.snrd | info:ar-repo/semantics/artículo | es_ES |