Renal Mitochondrial Cytopathies

by Francesco Emma, Giovanni Montini, Leonardo Salviati, Carlo Dionisi-Vici
Published 2011-01-01

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

by Francesca Caroppo, Elena Cama, Roberto Salmaso, Cinzia Bertolin, Leonardo Salviati, Anna Belloni Fortina
Published 2020-12-01

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina

by Riccardo Montioli, Giada Sgaravizzi, Maria Andrea Desbats, Silvia Grottelli, Carla Borri Voltattorni, Leonardo Salviati, Barbara Cellini
Published 2021-07-01

Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

by Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber
Published 2021-04-01

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

by Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto Burlina
Published 2020-11-01

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

by Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina
Published 2019-06-01

Crosstalk between Long-Term Sublethal Oxidative Stress and Detrimental Inflammation as Potential Drivers for Age-Related Retinal Degeneration

by Lara Macchioni, Davide Chiasserini, Letizia Mezzasoma, Magdalena Davidescu, Pier Luigi Orvietani, Katia Fettucciari, Leonardo Salviati, Barbara Cellini, Ilaria Bellezza
Published 2021-12-01

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

by Luis C López, Catarina M Quinzii, Estela Area, Ali Naini, Shamima Rahman, Markus Schuelke, Leonardo Salviati, Salvatore Dimauro, Michio Hirano
Published 2010-07-01

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

by Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina
Published 2021-06-01

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of <i>NF1</i> Variants

by Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini, Dario Seif Ali, Gianpietro Giorgi, Lisa Buson, Maria Andrea Desbats, Matteo Cassina, Maurizio Clementi, Leonardo Salviati, Eva Trevisson
Published 2021-02-01

Drug Repurposing for Duchenne Muscular Dystrophy: The Monoamine Oxidase B Inhibitor Safinamide Ameliorates the Pathological Phenotype in mdx Mice and in Myogenic Cultures From DMD...

by Libero Vitiello, Libero Vitiello, Manuela Marabita, Elisa Sorato, Leonardo Nogara, Giada Forestan, Vincent Mouly, Leonardo Salviati, Manuel Acosta, Bert Blaauw, Bert Blaauw, Bert Blaauw, Marcella Canton, Marcella Canton, Marcella Canton
Published 2018-08-01

DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass

by Giulia Favaro, Vanina Romanello, Tatiana Varanita, Maria Andrea Desbats, Valeria Morbidoni, Caterina Tezze, Mattia Albiero, Marta Canato, Gaia Gherardi, Diego De Stefani, Cristina Mammucari, Bert Blaauw, Simona Boncompagni, Feliciano Protasi, Carlo Reggiani, Luca Scorrano, Leonardo Salviati, Marco Sandri
Published 2019-06-01

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6

by Manuel J. Acosta Lopez, Eva Trevisson, Marcella Canton, Luis Vazquez-Fonseca, Valeria Morbidoni, Elisa Baschiera, Chiara Frasson, Ludovic Pelosi, Bérengère Rascalou, Maria Andrea Desbats, María Alcázar-Fabra, José Julián Ríos, Alicia Sánchez-García, Giuseppe Basso, Placido Navas, Fabien Pierrel, Gloria Brea-Calvo, Leonardo Salviati
Published 2019-01-01

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

by Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Published 2017-05-01

Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock.

by Kenneth Allen Dyar, Michaël Jean Hubert, Ashfaq Ali Mir, Stefano Ciciliot, Dominik Lutter, Franziska Greulich, Fabiana Quagliarini, Maximilian Kleinert, Katrin Fischer, Thomas Oliver Eichmann, Lauren Emily Wright, Marcia Ivonne Peña Paz, Alberto Casarin, Vanessa Pertegato, Vanina Romanello, Mattia Albiero, Sara Mazzucco, Rosario Rizzuto, Leonardo Salviati, Gianni Biolo, Bert Blaauw, Stefano Schiaffino, N Henriette Uhlenhaut
Published 2018-08-01

<i>ADCK2</i> Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

by Luis Vázquez-Fonseca, Jochen Schäefer, Ignacio Navas-Enamorado, Carlos Santos-Ocaña, Juan D. Hernández-Camacho, Ignacio Guerra, María V. Cascajo, Ana Sánchez-Cuesta, Zoltan Horvath, Emilio Siendones, Cristina Jou, Mercedes Casado, Purificación Gutierrez-Rios, Gloria Brea-Calvo, Guillermo López-Lluch, Daniel J.M. Fernández-Ayala, Ana B. Cortés, Juan C. Rodríguez-Aguilera, Cristiane Matté, Antonia Ribes, Sandra Y. Prieto-Soler, Eduardo Dominguez-del-Toro, Andrea di Francesco, Miguel A. Aon, Michel Bernier, Leonardo Salviati, Rafael Artuch, Rafael de Cabo, Sandra Jackson, Plácido Navas
Published 2019-09-01