Parcourir par auteur "Moggio, M."

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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)