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Πλοήγηση ανά Θέμα "C9orf72 Protein"

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    • Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS 

      Sokratous M., Lucia S., Bourinaris T., Marogianni C., Arnaoutoglou M., Patrikiou E., Ralli S., Markou A., Dardiotis E., Houlden H., Hadjigeorgiou G.M., Xiromerisiou G. (2020)
      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 ...

    • The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database 

      Marogianni C., Rikos D., Provatas A., Dadouli K., Ntellas P., Tsitsi P., Patrinos G., Dardiotis E., Hadjigeorgiou G., Xiromerisiou G. (2019)
      A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) cases predominantly ...

    • Screening for the C9orf72 expansion in Greek huntington disease phenocopies and controls and meta-analysis of current data 

      Rikos D., Marogianni C., Provatas A., Bourinaris T., Arnaoutoglou M., Stathis P., Patrinos G.P., Dardiotis E., Hadjigeorgiou G.M., Xiromerisiou G. (2020)
      Background: Several European studies examined the role of C9orf72 repeat expansion in patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to investigate the expansion frequency in a Greek ...

    • Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism 

      Conlon E.G., Fagegaltier D., Agius P., Davis-Porada J., Gregory J., Hubbard I., Kang K., Kim D., Phatnani H., Shneider N.A., Manley J.L., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Miller T.M., Chandran S., Pal S., Hornstein E., Macgowan D.J., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., The New York Genome Center ALS Consortium (2018)
      Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions ...