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Πλοήγηση ανά Θέμα "dystonia"

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    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

    • Risk factor genes in patients with dystonia: A comprehensive review 

      Siokas V., Aloizou A.-M., Tsouris Z., Michalopoulou A., Mentis A.-F.A., Dardiotis E. (2019)
      Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there ...

    • The role of tor1a polymorphisms in dystonia: A systematic review and meta- analysis 

      Siokas V., Dardiotis E., Tsironi E.E., Tsivgoulis G., Rikos D., Sokratous M., Koutsias S., Paterakis K., Deretzi G., Hadjigeorgiou G.M. (2017)
      Importance A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain ...

    • THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations 

      Xiromerisiou, G.; Houlden, H.; Scarmeas, N.; Stamelou, M.; Kara, E.; Hardy, J.; Lees, A. J.; Korlipara, P.; Limousin, P.; Paudel, R.; Hadjigeorgiou, G. M.; Bhatia, K. P. (2012)
      THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...

    • Therapeutic application of rTMS in neurodegenerative and movement disorders: A review 

      Pateraki G., Anargyros K., Aloizou A.-M., Siokas V., Bakirtzis C., Liampas I., Tsouris Z., Ziogka P., Sgantzos M., Folia V., Peristeri E., Dardiotis E. (2022)
      Transcranial magnetic stimulation (TMS) is a non-invasive form of brain stimulation that makes use of the magnetic field generated when an electric current passes through a magnetic coil placed over the scalp. It can be ...