TK2 mutation presenting as indolent myopathy

Por Paradas, Carmen, Gutiérrez Ríos, Purificacion, Rivas, Eloy, Carbonell, Pilar, Hirano, Michio, DiMauro, Salvatore
Publicado em 2013

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

Por Emmanuele, Valentina, Sotiriou, Evangelia, Gutierrez Rios, Purificación, Ganesh, Jaya, Ichord, Rebecca, Foley, A. Reghan, Akman, H. Orhan, DiMauro, Salvatore
Publicado em 2012

Balanced CoQ(6) biosynthesis is required for lifespan and mitophagy in yeast

Por González-Mariscal, Isabel, Martín-Montalvo, Aléjandro, Ojeda-González, Cristina, Rodríguez-Eguren, Adolfo, Gutiérrez-Ríos, Purificación, Navas, Plácido, Santos-Ocaña, Carlos
Publicado no Microb Cell (2017)

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Por Ronchi, Dario, Garone, Caterina, Bordoni, Andreina, Gutierrez Rios, Purificacion, Calvo, Sarah E., Ripolone, Michela, Ranieri, Michela, Rizzuti, Mafalda, Villa, Luisa, Magri, Francesca, Corti, Stefania, Bresolin, Nereo, Mootha, Vamsi K., Moggio, Maurizio, DiMauro, Salvatore, Comi, Giacomo P., Sciacco, Monica
Publicado em 2012

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado no Am J Hum Genet (2016)