Todo DSpace

Listar por autor "Previtali, S."

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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 ...