Leonardo Salviati

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 27

Top Topics

Genome Wide Analysis

Saccharomyces Cerevisiae

Top Venues

European journal of human genetics : EJHG

Nature communications

Molecular genetics & genomic medicine

Oxidative medicine and cellular longevity

This page only lists publications with an associated author ORCID identifier.

Publications

Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P Lieberman, Gopal J Babu, Marco Sandri, Bert Blaauw, Manuela Bassoi, Maria Pennuto
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca 2+ accumulation in spinobulbar muscular atrophy skeletal muscle. Nature communications 14 (1) (2023)
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. European journal of human genetics : EJHG (2023)
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P Lieberman, Gopal J Babu, Marco Sandri, Bert Blaauw, Manuela Bassoi, Maria Pennuto
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca 2+ accumulation in spinobulbar muscular atrophy skeletal muscle. Nature communications 14 (1) (2023)
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P Lieberman, Gopal J Babu, Marco Sandri, Bert Blaauw, Manuela Bassoi, Maria Pennuto
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca 2+ accumulation in spinobulbar muscular atrophy skeletal muscle. Nature communications 14 (1) (2023)
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P Lieberman, Gopal J Babu, Marco Sandri, Bert Blaauw, Manuela Bassoi, Maria Pennuto
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca 2+ accumulation in spinobulbar muscular atrophy skeletal muscle. Nature communications 14 (1) (2023)
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. European journal of human genetics : EJHG (2023)
Liliana Felicia Iannucci, Anna Maria D'Erchia, Ernesto Picardi, Daniela Bettio, Filippo Conca, Nicoletta Concetta Surdo, Giulietta Di Benedetto, Deborah Musso, Cristina Arrigoni, Marco Lolicato, Mauro Vismara, Francesca Grisan, Leonardo Salviati, Luciano Milanesi, Graziano Pesole, Konstantinos Lefkimmiatis
Cyclic AMP induces reversible EPAC1 condensates that regulate histone transcription. Nature communications 14 (1) (2023)
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P Lieberman, Gopal J Babu, Marco Sandri, Bert Blaauw, Manuela Bassoi, Maria Pennuto
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca 2+ accumulation in spinobulbar muscular atrophy skeletal muscle. Nature communications 14 (1) (2023)
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P Lieberman, Gopal J Babu, Marco Sandri, Bert Blaauw, Manuela Bassoi, Maria Pennuto
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca 2+ accumulation in spinobulbar muscular atrophy skeletal muscle. Nature communications 14 (1) (2023)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Franca Anglani, Leonardo Salviati, Matteo Cassina, Matteo Rigato, Laura Gobbi, Lorenzo Arcangelo Calò
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations. Journal of nephrology (2021)
Lara Macchioni, Davide Chiasserini, Letizia Mezzasoma, Magdalena Davidescu, Pier Luigi Orvietani, Katia Fettucciari, Leonardo Salviati, Barbara Cellini, Ilaria Bellezza
Crosstalk between Long-Term Sublethal Oxidative Stress and Detrimental Inflammation as Potential Drivers for Age-Related Retinal Degeneration. Antioxidants (Basel, Switzerland) 10 (1) (2020)
Eva Trevisson, Valeria Morbidoni, Monica Forzan, Cecilia Daolio, Valentina Fumini, Raffaele Parrozzani, Matteo Cassina, Edoardo Midena, Leonardo Salviati, Maurizio Clementi
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. Molecular genetics & genomic medicine 7 (5) (2019)
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
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6. Oxidative medicine and cellular longevity 2019 (2019)
Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J Acosta, Cristina Cerqua, Matteo Cassina, Shazia Ashraf, Friedhelm Hildebrandt, Geppo Sartori, Placido Navas, Eva Trevisson, Leonardo Salviati
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. Human mutation 39 (3) (2017)
Eva Trevisson, Maurizio Clementi, Leonardo Salviati
Is there a link between COQ6 and schwannomatosis? Genetics in medicine : official journal of the American College of Medical Genetics 17 (4) (2016)