Renal involvement in mitochondrial cytopathies

Por Emma, Francesco, Bertini, Enrico, Salviati, Leonardo, Montini, Giovanni
Publicado em 2011

Renal Mitochondrial Cytopathies

Por Emma, Francesco, Montini, Giovanni, Salviati, Leonardo, Dionisi-Vici, Carlo
Publicado em 2011

Coenzyme Q(10) Deficiencies in Neuromuscular Diseases

Por Artuch, Rafael, Salviati, Leonardo, Jackson, Sandra, Hirano, Michio, Navas, Plácido
Publicado em 2009

Genetics of Coenzyme Q(10) Deficiency

Por Doimo, Mara, Desbats, Maria A., Cerqua, Cristina, Cassina, Matteo, Trevisson, Eva, Salviati, Leonardo
Publicado em 2014

Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney

Por Tosetto, Enrica, Casarin, Alberto, Salviati, Leonardo, Familiari, Alessandra, Lieske, John C, Anglani, Franca
Publicado em 2014

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

Por Cassina, Matteo, Cerqua, Cristina, Rossi, Silvia, Salviati, Leonardo, Martini, Alessandro, Clementi, Maurizio, Trevisson, Eva
Publicado no Eur J Hum Genet (2017)

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q(10) Deficiency

Por Quinzii, Catarina, Naini, Ali, Salviati, Leonardo, Trevisson, Eva, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio
Publicado em 2006

The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis

Por Horn, Darryl, Zhou, Wen, Trevisson, Eva, Al-Ali, Hassan, Harris, Thomas K., Salviati, Leonardo, Barrientos, Antoni
Publicado em 2010

Deletion of PTEN and BMPR1A on Chromosome 10q23 Is Not Always Associated with Juvenile Polyposis of Infancy

Por Salviati, Leonardo, Patricelli, Mariagrazia, Guariso, Graziella, Sturniolo, Giacomo Carlo, Alaggio, Rita, Bernardi, Franca, Zuffardi, Orsetta, Tenconi, Romano
Publicado em 2006

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

Por Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M., Trevisson, Eva, Salviati, Leonardo
Publicado no JIMD Rep (2015)

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.

Por Salviati, Leonardo, Hernandez-Rosa, Evelyn, Walker, Winsome F, Sacconi, Sabrina, DiMauro, Salvatore, Schon, Eric A, Davidson, Mercy M
Publicado em 2002

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

Por Toldo, Irene, Bruson, Alice, Casarin, Alberto, Salviati, Leonardo, Boniver, Clementina, Sartori, Stefano, Montagna, Pasquale, Battistella, Pier Antonio, Clementi, Maurizio
Publicado em 2011

Comorbidity between headache and epilepsy in a pediatric headache center

Por Toldo, Irene, Perissinotto, Egle, Menegazzo, Francesca, Boniver, Clementina, Sartori, Stefano, Salviati, Leonardo, Clementi, Maurizio, Montagna, Pasquale, Battistella, Pier Antonio
Publicado em 2010

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q(10) deficiency()

Por Doimo, Mara, Trevisson, Eva, Airik, Rannar, Bergdoll, Marc, Santos-Ocaña, Carlos, Hildebrandt, Friedhelm, Navas, Placido, Pierrel, Fabien, Salviati, Leonardo
Publicado em 2014

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Por Trevisson, Eva, Burlina, Alberto, Doimo, Mara, Pertegato, Vanessa, Casarin, Alberto, Cesaro, Luca, Navas, Placido, Basso, Giuseppe, Sartori, Geppo, Salviati, Leonardo
Publicado em 2009

Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

Por López, Luis C., Quinzii, Catarina M., Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, DiMauro, Salvatore, Hirano, Michio
Publicado em 2010

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q(10) biosynthesis()

Por Nguyen, Theresa P.T., Casarin, Alberto, Desbats, Maria Andrea, Doimo, Mara, Trevisson, Eva, Santos-Ocaña, Carlos, Navas, Placido, Clarke, Catherine F., Salviati, Leonardo
Publicado no Biochim Biophys Acta Mol Cell Biol Lipids (2014)

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ(10) deficiency

Por Quinzii, Catarina M., López, Luis C., Von-Moltke, Jakob, Naini, Ali, Krishna, Sindu, Schuelke, Markus, Salviati, Leonardo, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio
Publicado em 2008

Whole Exome Sequencing in Dominant Cataract Identifies a New Causative Factor, CRYBA2, and a Variety of Novel Alleles in Known Genes

Por Reis, Linda M., Tyler, Rebecca C., Muheisen, Sanaa, Raggio, Victor, Salviati, Leonardo, Han, Dennis P., Costakos, Deborah, Yonath, Hagith, Hall, Sarah, Power, Patricia, Semina, Elena V.
Publicado em 2013

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

Por Sacconi, Sabrina, Camaño, Pilar, de Greef, Jessica C., Lemmers, Richard J. L. F., Salviati, Leonardo, Boileau, Pascal, de Munain Arregui, Adolfo Lopez, van der Maarel, Silvère M., Desnuelle, Claude
Publicado em 2011