Sfoglia per Autore
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency
2016 Andrea Desbats, Maria; Morbidoni, Valeria; SILIC-BENUSSI, Micol; Doimo, Mara; Ciminale, Vincenzo; Cassina, Matteo; Sacconi, Sabrina; Hirano, Michio; Basso, Giuseppe; Pierrel, Fabien; Navas, Placido; Salviati, Leonardo; Trevisson, Eva
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
2015 Desbats, Ma; Vetro, A; Limongelli, I; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, G; Burlina, Alberto; Rodriguez Hernandez, Ma; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, P; Zuffardi, O; Salviati, Leonardo
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
2014 Desbats, MARIA ANDREA; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo
Genetics of coenzyme q10 deficiency.
2014 Doimo, Mara; Desbats, MARIA ANDREA; Cerqua, C; Cassina, Matteo; Trevisson, Eva; Salviati, Leonardo
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.
2014 Nguyen, Tp; Casarin, Alberto; Desbats, MARIA ANDREA; Doimo, Mara; Trevisson, Eva; Santos Ocaña, C; Navas, P; Clarke, Cf; Salviati, Leonardo
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.
2013 Doimo, Mara; Desbats, Ma; Baldoin, Mc; Lenzini, E; Basso, Giuseppe; Murphy, E; Graziano, C; Seri, M; Burlina, A; Sartori, Geppo; Trevisson, Eva; Salviati, Leonardo
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency
2012 Salviati, Leonardo; Trevisson, Eva; Rodriguez Hernandez, Ma; Casarin, Alberto; Pertegato, V; Doimo, Mara; Cassina, Matteo; Agosto, C; Desbats, Ma; Sartori, Geppo; Sacconi, S; Memo, L; Zuffardi, O; Artuch, R; Quinzii, C; Dimauro, S; Hirano, M; Santos Ocana, C; Navas, P.
RNA granules: The good, the bad and the ugly
2011 Thomas, María Gabriela; Loschi, Mariela; Desbats, Maria Andrea; Boccaccio, Graciela Lidia
Visualization by BiFC of different C/EBPβ dimers and their interaction with HP1α reveals a differential subnuclear distribution of complexes in living cells
2011 Susperreguy, Sebastián; Prendes, Luciana P; Desbats, Maria A; Charó, Nancy L; Brown, Karen; Macdougald, Ormond A; Kerppola, Tom; Schwartz, Jessica; Piwien-Pilipuk, Graciela
Mammalian Staufen 1 is recruited to stress granules and impairs their assembly
2009 Thomas, María Gabriela; Martinez Tosar, Leandro J; Desbats, Maria Andrea; Leishman, Claudia C; Boccaccio, Graciela L
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