Bibliotecas PUC-SP - Busca Integrada

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Bằng Fernandez‐Vizarra, Erika, Berardinelli, Angela, Valente, Lucia, Tiranti, Valeria, Zeviani, Massimo
Được phát hành 2007

How Do Human Cells React to the Absence of Mitochondrial DNA?

Bằng Mineri, Rossana, Pavelka, Norman, Fernandez-Vizarra, Erika, Ricciardi-Castagnoli, Paola, Zeviani, Massimo, Tiranti, Valeria
Được phát hành 2009

Epstein-Barr Virus Immediate-Early Protein Zta Co-Opts Mitochondrial Single-Stranded DNA Binding Protein To Promote Viral and Inhibit Mitochondrial DNA Replication

Bằng Wiedmer, Andreas, Wang, Pu, Zhou, Jing, Rennekamp, Andrew J., Tiranti, Valeria, Zeviani, Massimo, Lieberman, Paul M.
Được phát hành 2008

FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

Bằng Ghezzi, Daniele, Saada, Ann, D'Adamo, Pio, Fernandez-Vizarra, Erika, Gasparini, Paolo, Tiranti, Valeria, Elpeleg, Orly, Zeviani, Massimo
Được phát hành 2008

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Bằng Valente, Lucia, Tiranti, Valeria, Marsano, René Massimiliano, Malfatti, Edoardo, Fernandez-Vizarra, Erika, Donnini, Claudia, Mereghetti, Paolo, De Gioia, Luca, Burlina, Alberto, Castellan, Claudio, Comi, Giacomo P., Savasta, Salvatore, Ferrero, Iliana, Zeviani, Massimo
Được phát hành 2007

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Bằng Tiranti, Valeria, D’Adamo, Pio, Briem, Egill, Ferrari, Gianfrancesco, Mineri, Rossana, Lamantea, Eleonora, Mandel, Hanna, Balestri, Paolo, Garcia-Silva, Maria-Teresa, Vollmer, Brigitte, Rinaldo, Piero, Hahn, Si Houn, Leonard, James, Rahman, Shamima, Dionisi-Vici, Carlo, Garavaglia, Barbara, Gasparini, Paolo, Zeviani, Massimo
Được phát hành 2004