Πλοήγηση ανά Συγγραφέα "Bordoni, A."
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A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
Crimi, M.; Papadimitriou, A.; Galbiati, S.; Palamidou, P.; Fortunato, F.; Bordoni, A.; Papandreou, U.; Papadimitriou, D.; Hadjigeorgiou, G. M.; Drogari, E.; Bresolin, N.; Comi, G. P. (2004)We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal ... -
Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
Virgilio, R.; Ronchi, D.; Hadjigeorgiou, G. M.; Bordoni, A.; Saladino, F.; Moggio, M.; Adobbati, L.; Kafetsouli, D.; Tsironi, E.; Previtali, S.; Papadimitriou, A.; Bresolin, N.; Comi, G. P. (2008)Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ... -
Screening of Twinkle gene in POLG1- and ANT1-negative patients with mitochondrial myopathy and multiple mitochondrial DNA deletions: four new mutations
Virgilio, R.; Ronchi, D.; Bordoni, A.; Adobbati, L.; Hadjigeorgiou, G. M.; Kafet-Souli, D.; Tsironi, E.; Papadimitriou, A.; Moggio, M.; Bresolin, N.; Comi, G. P. (2006)