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Parcourir par sujet "ALPHA-SYNUCLEIN GENE"

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    • Genetic assessment of familial and early-onset Parkinson's disease in a Greek population 

      Bozi, M.; Papadimitriou, D.; Antonellou, R.; Moraitou, M.; Maniati, M.; Vassilatis, D. K.; Papageorgiou, S. G.; Leonardos, A.; Tagaris, G.; Malamis, G.; Theofilopoulos, D.; Kamakari, S.; Stamboulis, E.; Hadjigeorgiou, G. M.; Athanassiadou, A.; Michelakakis, H.; Papadimitriou, A.; Gasser, T.; Stefanis, L. (2014)
      Background and purpose Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic ...

    • Genetic basis of Parkinson disease 

      Xiromerisiou, G.; Dardiotis, E.; Tsimourtou, V.; Kountra, P. M.; Paterakis, K. N.; Kapsalaki, E. Z.; Fountas, K. N.; Hadjigeorgiou, G. M. (2010)
      Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ...

    • Positron emission tomography changes in PARK1 mutation 

      Perani, D.; Garibotto, V.; Hadjigeorgiou, G. M.; Papadimitriou, D.; Fazio, F.; Papadimitriou, A. (2006)

    • Protein misfolding in neurodegenerative diseases 

      Agorogiannis, E. I.; Agorogiannis, G. I.; Papadimitriou, A.; Hadjigeorgiou, G. M. (2004)
      A common pathogenic mechanism shared by diverse neurodegenerative disorders, like Alzheimer's disease, Parkinson's disease, Huntington's disease and transmissible spongiform encephalopathies, may be altered protein homeostasis ...

    • Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants 

      Xiromerisiou, G.; Hadjigeorgiou, G. M.; Gourbali, V.; Johnson, J.; Papakonstantinou, I.; Papadimitriou, A.; Singleton, A. B. (2007)
      Mutations in SNCA and LRRK2 genes, encoding alpha-synuclein and leucine-rich repeat kinase 2, respectively, cause autosomal dominant Parkinson's disease (AdPD). The LRRK2 G2019S (c.6055G > A) and R1441G (c.4321C > G) ...