Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

von Ranieri, Michela, Del Bo, Roberto, Bordoni, Andreina, Ronchi, Dario, Colombo, Irene, Riboldi, Giulietta, Cosi, Alessandra, Servida, Maura, Magri, Francesca, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Veröffentlicht 2012

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

von Ronchi, Dario, Cosi, Alessandra, Tonduti, Davide, Orcesi, Simona, Bordoni, Andreina, Fortunato, Francesco, Rizzuti, Mafalda, Sciacco, Monica, Collotta, Martina, Cagdas, Sophie, Capovilla, Giuseppe, Moggio, Maurizio, Berardinelli, Angela, Veggiotti, Pierangelo, Comi, Giacomo P
Veröffentlicht 2011

The novel mitochondrial tRNA(Asn) gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

von Ronchi, Dario, Sciacco, Monica, Bordoni, Andreina, Raimondi, Monika, Ripolone, Michela, Fassone, Elisa, Di Fonzo, Alessio, Rizzuti, Mafalda, Ciscato, Patrizia, Cosi, Alessandra, Servida, Maura, Moggio, Maurizio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P
Veröffentlicht 2012

Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia()

von Ronchi, Dario, Fassone, Elisa, Bordoni, Andreina, Sciacco, Monica, Lucchini, Valeria, Di Fonzo, Alessio, Rizzuti, Mafalda, Colombo, Irene, Napoli, Laura, Ciscato, Patrizia, Moggio, Maurizio, Cosi, Alessandra, Collotta, Martina, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P.
Veröffentlicht 2011