SPINAZZI, MARCO
SPINAZZI, MARCO
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
2008 Spinazzi, Marco; Cazzola, S; Bortolozzi, Mario; Baracca, A; Loro, Emanuele; Casarin, Alberto; Solaini, G; Sgarbi, G; Casalena, G; Cenacchi, G; Malena, Adriana; Frezza, C; Carrara, F; Angelini, Corrado; Scorrano, Luca; Salviati, Leonardo; Vergani, L.
Cardioembolic stroke in Danon disease.
2008 Spinazzi, Marco; Fanin, Marina; Melacini, Paola; Nascimbeni, ANNA CHIARA; Angelini, Corrado
Dominant optic atrophy caused by a novel OPA1 mutation: Disruption of the mitochondrial network with preserved bioenergetics.
2008 Spinazzi, Marco; Cazzola, S; Bortolozzi, Mario; Baracca, A; Loro, Emanuele; Solaini, G; Sgarbi, G; Cenacchi, G; Malena, Adriana; Scorrano, Luca; Frezza, C; Angelini, Corrado; Vergani, Lodovica
Electrophysiological, neuro-hormonal and neuropsychological response to immunotherapy in a case of atypical Morvan syndrome with limbic seizures
2008 Spinazzi, Marco; Palmieri, Arianna; Armanini, Decio; A., Vincent; S., Irani; A., Pellegrini; G., Cenacchi; Argentiero, Vincenza
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease
2006 Fanin, Marina; Nascimbeni, ANNA CHIARA; Fulizio, L; Spinazzi, Marco; Melacini, Paola; Angelini, Corrado
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
2017 Borgia, Doriana; Malena, Adriana; Spinazzi, Marco; Andrea Desbats, Maria; Salviati, Leonardo; Russell, Aaron P; Miotto, Giovanni; Tosatto, Laura; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria; Vergani, Lodovica; Miotto, Giovanni
Multisystemic LAMP-2 defect in Danon disease.
2007 Fanin, Marina; Nascimbeni, ANNA CHIARA; Tasca, Elisabetta; Nardetto, Lucia; Spinazzi, Marco; Melacini, Paola; Angelini, Corrado
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
2015 Desbats, Ma; Vetro, A; Limongelli, I; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, G; Burlina, Alberto; Rodriguez Hernandez, Ma; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, P; Zuffardi, O; Salviati, Leonardo