Sfoglia per Autore  

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Mostrati risultati da 1 a 10 di 10
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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, LodovicaMIOTTO GIOVANNI + HUMAN MOLECULAR GENETICS - -
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 2015 Desbats MALUNARDI, GIADACASARIN, ALBERTODOIMO, MARASPINAZZI, MARCOANGELINI, CORRADOBURLINA, ALBERTOCHIANDETTI, LINOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Optimized protocols for the analysis of mithocondrial respiratory chain enzymes in cells and tissues 2012 Spinazzi, Marco - - -
Cardioembolic stroke in Danon disease. 2008 SPINAZZI, MARCOFANIN, MARINAMELACINI, PAOLANASCIMBENI, ANNA CHIARAANGELINI, CORRADO CLINICAL GENETICS - -
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 - -
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 - -
Multisystemic LAMP-2 defect in Danon disease. 2007 FANIN, MARINANASCIMBENI, ANNA CHIARATASCA, ELISABETTANARDETTO, LUCIASPINAZZI, MARCOMELACINI, PAOLAANGELINI, CORRADO BASIC AND APPLIED MYOLOGY - -
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 - -
Multisystem primary defect of LAMP-2 in Danon disease 2006 MELACINI, PAOLAFANIN, MARINASPINAZZI, MARCOPESCATORE, VALENTINAILICETO, SABINOANGELINI, CORRADO + EUROPEAN HEART JOURNAL - European Heart Journal
Mostrati risultati da 1 a 10 di 10
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