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Πλοήγηση ανά Συγγραφέα "Hirano, M."

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    • Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations 

      Nishino, I.; Spinazzola, A.; Papadimitriou, A.; Hammans, S.; Steiner, I.; Hahn, C. D.; Connolly, A. M.; Verloes, A.; Guimaraes, J.; Maillard, I.; Hamano, H.; Donati, M. A.; Semrad, C. E.; Russell, J. A.; Andreu, A. L.; Hadjigeorgiou, G. M.; Vu, T. H.; Tadesse, S.; Nygaard, T. G.; Nonaka, I.; Hirano, I.; Bonilla, E.; Rowland, L. P.; DiMauro, S.; Hirano, M. (2000)
      Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; ...

    • Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance? 

      Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)
      The G209A mutation in the alpha-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed ...

    • Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance? 

      Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)
      The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...