SPINAZZI, MARCO

SPINAZZI, MARCO  

Mostra records
Risultati 1 - 10 di 10 (tempo di esecuzione: 0.023 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Multisystem primary defect of LAMP-2 in Danon disease 2006 MELACINI, PAOLAFANIN, MARINASPINAZZI, MARCOPESCATORE, VALENTINAILICETO, SABINOANGELINI, CORRADO + EUROPEAN HEART JOURNAL - European Heart Journal
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease 2006 FANIN, MARINANASCIMBENI, ANNA CHIARASPINAZZI, MARCOMELACINI, PAOLAANGELINI, CORRADO + THE AMERICAN JOURNAL OF PATHOLOGY - -
Multisystemic LAMP-2 defect in Danon disease. 2007 FANIN, MARINANASCIMBENI, ANNA CHIARATASCA, ELISABETTANARDETTO, LUCIASPINAZZI, MARCOMELACINI, PAOLAANGELINI, CORRADO BASIC AND APPLIED MYOLOGY - -
Cardioembolic stroke in Danon disease. 2008 SPINAZZI, MARCOFANIN, MARINAMELACINI, PAOLANASCIMBENI, ANNA CHIARAANGELINI, CORRADO CLINICAL GENETICS - -
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 2008 SPINAZZI, MARCOBORTOLOZZI, MARIOLORO, EMANUELECASARIN, ALBERTOMALENA, ADRIANAANGELINI, CORRADOSCORRANO, LUCASALVIATI, LEONARDO + HUMAN MOLECULAR GENETICS - -
Electrophysiological, neuro-hormonal and neuropsychological response to immunotherapy in a case of atypical Morvan syndrome with limbic seizures 2008 SPINAZZI, MARCOPALMIERI, ARIANNAARMANINI, DECIOARGENTIERO, VINCENZA + NEUROLOGY - -
Dominant optic atrophy caused by a novel OPA1 mutation: Disruption of the mitochondrial network with preserved bioenergetics. 2008 SPINAZZI, MARCOBORTOLOZZI, MARIOLORO, EMANUELEMALENA, ADRIANASCORRANO, LUCAANGELINI, CORRADOVERGANI, LODOVICA + BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - -
Optimized protocols for the analysis of mithocondrial respiratory chain enzymes in cells and tissues 2012 Spinazzi, Marco - - -
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 2015 LUNARDI, GIADACASARIN, ALBERTODOIMO, MARASPINAZZI, MARCOANGELINI, CORRADOBURLINA, ALBERTOCHIANDETTI, LINOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 2017 Borgia, DorianaMalena, AdrianaSpinazzi, MarcoAndrea Desbats, MariaSalviati, LeonardoMIOTTO, GIOVANNITosatto, LauraPegoraro, ElenaSorarù, GianniPennuto, MariaVergani, Lodovica + HUMAN MOLECULAR GENETICS - -