Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

por Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol
Publicado 2021

Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy

por Vu Hong, Ai, Bourg, Nathalie, Sanatine, Peggy, Poupiot, Jerome, Charton, Karine, Gicquel, Evelyne, Massourides, Emmanuelle, Spinazzi, Marco, Richard, Isabelle, Israeli, David
Publicado 2022

Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

por Radaelli, Enrico, Assenmacher, Charles-Antoine, Verrelle, Jillian, Banerjee, Esha, Manero, Florence, Khiati, Salim, Girona, Anais, Lopez-Lluch, Guillermo, Navas, Placido, Spinazzi, Marco
Publicado 2023

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

por 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
Publicado 2017

Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure

por 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
Publicado 2015

PERK recruits E-Syt1 at ER–mitochondria contacts for mitochondrial lipid transport and respiration

por Sassano, Maria Livia, van Vliet, Alexander R., Vervoort, Ellen, Van Eygen, Sofie, Van den Haute, Chris, Pavie, Benjamin, Roels, Joris, Swinnen, Johannes V., Spinazzi, Marco, Moens, Leen, Casteels, Kristina, Meyts, Isabelle, Pinton, Paolo, Marchi, Saverio, Rochin, Leila, Giordano, Francesca, Felipe-Abrio, Blanca, Agostinis, Patrizia
Publicado 2023

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

por Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, Latour, Philippe, Reilly, Mary M., Bouhour, Francoise, Stojkovic, Tanya
Publicado 2023