MARCHET, SILVIA
MARCHET, SILVIA
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
2017 Legati, A.; Reyes, A.; Ceccatelli Berti, C.; Stehling, O.; Marchet, S.; Lamperti, C.; Ferrari, A.; Robinson, A. J.; Muhlenhoff, U.; Lill, R.; Zeviani, M.; Goffrini, P.; Ghezzi, D.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
2020 Bugiardini, E.; Bottani, E.; Marchet, S.; Poole, O. V.; Beninca, C.; Horga, A.; Woodward, C.; Lam, A.; Hargreaves, I.; Chalasani, A.; Valerio, A.; Lamantea, E.; Venner, K.; Holton, J. L.; Zeviani, M.; Houlden, H.; Quinlivan, R.; Lamperti, C.; Hanna, M. G.; Pitceathly, R. D. S.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
2014 Melchionda, L.; Haack, T. B.; Hardy, S.; Abbink, T. E. M.; Fernandez-Vizarra, E.; Lamantea, E.; Marchet, S.; Morandi, L.; Moggio, M.; Carrozzo, R.; Torraco, A.; Diodato, D.; Strom, T. M.; Meitinger, T.; Tekturk, P.; Yapici, Z.; Al-Murshedi, F.; Stevens, R.; Rodenburg, R. J.; Lamperti, C.; Ardissone, A.; Moroni, I.; Uziel, G.; Prokisch, H.; Taylor, R. W.; Bertini, E.; Van Der Knaap, M. S.; Ghezzi, D.; Zeviani, M.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
2014 Melchionda, Laura; Haack, Tobias B; Hardy, Steven; Abbink, Truus E M; Fernandez-Vizarra, Erika; Lamantea, Eleonora; Marchet, Silvia; Morandi, Lucia; Moggio, Maurizio; Carrozzo, Rosalba; Torraco, Alessandra; Diodato, Daria; Strom, Tim M; Meitinger, Thomas; Tekturk, Pinar; Yapici, Zuhal; Al-Murshedi, Fathiya; Stevens, René; Rodenburg, Richard J; Lamperti, Costanza; Ardissone, Anna; Moroni, Isabella; Uziel, Graziella; Prokisch, Holger; Taylor, Robert W; Bertini, Enrico; van der Knaap, Marjo S; Ghezzi, Daniele; Zeviani, Massimo
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models
2015 Civiletto, G.; Varanita, T.; Cerutti, R.; Gorletta, T.; Barbaro, S.; Marchet, S.; Lamperti, C.; Viscomi, C.; Scorrano, L.; Zeviani, M.
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
2017 Zanolini, A.; Potic, A.; Carrara, F.; Lamantea, E.; Diodato, D.; Blasevich, F.; Marchet, S.; Mora, M.; Pallotti, F.; Morandi, L.; Zeviani, M.; Lamperti, C.