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Πλοήγηση ανά Θέμα "GAUCHER-DISEASE"

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    • beta-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease 

      Moraitou, M.; Hadjigeorgiou, G.; Monopolis, I.; Dardiotis, E.; Bozi, M.; Vassilatis, D.; Vilageliu, L.; Grinberg, D.; Xiromerisiou, G.; Stefanis, L.; Michelakakis, H. (2011)
      An increasing number of clinical, neuropathological and experimental evidence linking Gaucher disease and a spectrum of synucleinopathies, including Parkinson's disease (PD) has emerged over the last decade. In particular, ...

    • Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease 

      Michelakakis, H.; Xiromerisiou, G.; Dardiotis, E.; Bozi, M.; Vassilatis, D.; Kountra, P. M.; Patramani, G.; Moraitou, M.; Papadimitriou, D.; Stamboulis, E.; Stefanis, L.; Zintzaras, E.; Hadjigeorgiou, G. M. (2012)
      Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphateindependent receptor for glucocerebrosidase ...

    • 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 ...