検索結果 - Spinazzi, Marco

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders 著者: Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol

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Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease 著者: Fanin, Marina, Nascimbeni, Anna C., Fulizio, Luigi, Spinazzi, Marco, Melacini, Paola, Angelini, Corrado

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Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial 著者: Sharshar, Tarek, Porcher, Raphaël, Demeret, Sophie, Tranchant, Christine, Gueguen, Antoine, Eymard, Bruno, Nadaj-Pakleza, Aleksandra, Spinazzi, Marco, Grimaldi, Lamiae, Birnbaum, Simone, Friedman, Diane, Clair, Bernard

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Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 著者: Borgia, Doriana, Malena, Adriana, Spinazzi, Marco, Desbats, Maria Andrea, Salviati, Leonardo, Russell, Aaron P., Miotto, Giovanni, Tosatto, Laura, Pegoraro, Elena, Sorarù, Gianni, Pennuto, Maria, Vergani, Lodovica

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PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome 著者: Spinazzi, Marco, Radaelli, Enrico, Horré, Katrien, Arranz, Amaia M., Gounko, Natalia V., Agostinis, Patrizia, Maia, Teresa Mendes, Impens, Francis, Morais, Vanessa Alexandra, Lopez-Lluch, Guillermo, Serneels, Lutgarde, Navas, Placido, De Strooper, Bart

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Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure 著者: Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez, Maria Angeles, Chiandetti, Lino, Clementi, Maurizio, Trevisson, Eva, Navas, Placido, Zuffardi, Orsetta, Salviati, Leonardo

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