Renal involvement in mitochondrial cytopathies

由 Emma, Francesco, Bertini, Enrico, Salviati, Leonardo, Montini, Giovanni
出版 2011

Renal Mitochondrial Cytopathies

由 Emma, Francesco, Montini, Giovanni, Salviati, Leonardo, Dionisi-Vici, Carlo
出版 2011

Mitochondrial dysfunction in inherited renal disease and acute kidney injury

由 Emma, Francesco, Montini, Giovanni, Parikh, Samir M., Salviati, Leonardo
發表在 Nat Rev Nephrol (2016)

Coenzyme Q(10) Deficiencies in Neuromuscular Diseases

由 Artuch, Rafael, Salviati, Leonardo, Jackson, Sandra, Hirano, Michio, Navas, Plácido
出版 2009

Genetics of Coenzyme Q(10) Deficiency

由 Doimo, Mara, Desbats, Maria A., Cerqua, Cristina, Cassina, Matteo, Trevisson, Eva, Salviati, Leonardo
出版 2014

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

由 Tosetto, Enrica, Casarin, Alberto, Salviati, Leonardo, Familiari, Alessandra, Lieske, John C, Anglani, Franca
出版 2014

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis

由 Caroppo, Francesca, Cama, Elena, Salmaso, Roberto, Bertolin, Cinzia, Salviati, Leonardo, Belloni Fortina, Anna
發表在 Clin Case Rep (2020)

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

由 Cassina, Matteo, Cerqua, Cristina, Rossi, Silvia, Salviati, Leonardo, Martini, Alessandro, Clementi, Maurizio, Trevisson, Eva
發表在 Eur J Hum Genet (2017)

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

由 Quinzii, Catarina, Naini, Ali, Salviati, Leonardo, Trevisson, Eva, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio
出版 2006

Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells

由 Cerqua, Cristina, Casarin, Alberto, Pierrel, Fabien, Vazquez Fonseca, Luis, Viola, Giampiero, Salviati, Leonardo, Trevisson, Eva
發表在 Sci Rep (2019)

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

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

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

由 Salviati, Leonardo, Patricelli, Mariagrazia, Guariso, Graziella, Sturniolo, Giacomo Carlo, Alaggio, Rita, Bernardi, Franca, Zuffardi, Orsetta, Tenconi, Romano
出版 2006

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

由 Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M., Trevisson, Eva, Salviati, Leonardo
發表在 JIMD Rep (2015)

Sarcopenia: Aging-Related Loss of Muscle Mass and Function

由 Larsson, Lars, Degens, Hans, Li, Meishan, Salviati, Leonardo, Lee, Young il, Thompson, Wesley, Kirkland, James L., Sandri, Marco
發表在 Physiol Rev (2019)

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

由 Burlina, Alberto B., Polo, Giulia, Rubert, Laura, Gueraldi, Daniela, Cazzorla, Chiara, Duro, Giovanni, Salviati, Leonardo, Burlina, Alessandro P.
發表在 Int J Neonatal Screen (2019)

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

由 Gragnaniello, Vincenza, Gueraldi, Daniela, Rubert, Laura, Manzoni, Francesca, Cazzorla, Chiara, Giuliani, Antonella, Polo, Giulia, Salviati, Leonardo, Burlina, Alberto
發表在 Int J Neonatal Screen (2020)

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

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

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

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

Comorbidity between headache and epilepsy in a pediatric headache center

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

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

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