Sfoglia per Autore
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.
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
2010 Ghezzi, D.; Sevrioukova, I.; Invernizzi, F.; Lamperti, C.; Mora, M.; D'Adamo, P.; Novara, F.; Zuffardi, O.; Uziel, G.; Zeviani, M.
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
2009 Viscomi, C.; Spinazzola, A.; Maggioni, M.; Fernandez-Vizarra, E.; Massa, V.; Pagano, C.; Vettor, R.; Mora, M.; Zeviani, M.
Identification of novel mutations in five patients with mitochondrial encephalomyopathy
2009 Valente, L.; Piga, D.; Lamantea, E.; Carrara, F.; Uziel, G.; Cudia, P.; Zani, A.; Farina, L.; Morandi, L.; Mora, M.; Spinazzola, A.; Zeviani, M.; Tiranti, V.
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNA Ser(UCN) gene
2004 Fetoni, V.; Briem, E.; Carrara, F.; Mora, M.; Zeviani, M.
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation
2004 Spinazzola, A.; Carrara, F.; Mora, M.; Zeviani, M.
Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: A second case
2000 Uziel, G.; Carrara, F.; Granata, T.; Lamantea, E.; Mora, M.; Zeviani, M.
A novel mutation (8342G → A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus
1999 Tiranti, V.; Carrara, F.; Confalonieri, P.; Mora, M.; Maffei, R. M.; Lamantea, E.; Zeviani, M.
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
1998 Casari, G.; De Fusco, M.; Ciarmatori, S.; Zeviani, M.; Mora, M.; Fernandez, P.; De Michele, G.; Filla, A.; Cocozza, S.; Marconi, R.; Durr, A.; Fontaine, B.; Ballabio, A.
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation
1998 Tiranti, V.; D'Agruma, L.; Pareyson, D.; Mora, M.; Carrara, F.; Zelante, L.; Gasparini, P.; Zeviani, M.
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study
1995 Mariotti, C.; Uziel, G.; Carrara, F.; Mora, M.; Prelle, A.; Tiranti, V.; Didonato, S.; Zeviani, M.
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