Πλοήγηση ανά Συγγραφέα "Musumeci, O."
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Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders
Scalco, R. S.; Quinlivan, R.; Martin, R.; Baruch, N.; Martin, M.; Navarra, C.; Martinuzzi, A.; Bruno, C.; Laforet, P.; Sperber, K.; Sacconi, S.; Wakelin, A.; Hadjigeorgiou, G.; Vissing, J.; Vorgerd, M.; Haller, R.; Oflazer, Z.; Pouget, J.; Lucia, A.; Andreu, T.; Toscano, A.; Musumeci, O. (2014) -
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 ...