Πλοήγηση ανά Συγγραφέα "DiMauro, S."
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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; ... -
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
Hadjigeorgiou, G. M.; Sadeh, M.; Musumeci, O.; Dabby, R.; De Girolami, L.; Naini, A.; Papadimitriou, A.; Shanske, S.; DiMauro, S. (2002)Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both ... -
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
Hadjigeorgiou, G. M.; Papadimitriou, A.; Musumeci, O.; Paterakis, K.; Flabouriari, K.; Shanske, S.; DiMauro, S. (2002)We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...