All papers authored by Leonardo Salviati
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2024
Marivi V. Cascajo-Almenara,
Cascajo Almenara Mv,
Daniel Natera de Benito,
Natalia Juliá-Palacios,
Roser Urreizti 
,
Ana Sánchez-Cuesta,
Fernández Ayala Dm,
Daniel M. Fernández-Ayala,
Elena García Díaz,
Elena García-Díaz ,
Clara Oliva,
O. Callaghan Mdm,
Maria del Mar O´Callaghan,
Abraham Jose Paredes-Fuentes ,
Pedro J. Moreno-Lozano
and 19 other authors
,
Ana Sánchez-Cuesta,
Fernández Ayala Dm,
Daniel M. Fernández-Ayala,
Elena García Díaz,
Elena García-Díaz ,
Clara Oliva,
O. Callaghan Mdm,
Maria del Mar O´Callaghan,
Abraham Jose Paredes-Fuentes ,
Pedro J. Moreno-Lozano
and 19 other authors
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
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2022
Hong Joo Kim ,
Sandra Donkervoort,
Kevin O’Donovan,
Lin Guo,
Maura Coughlin,
Payam Mohassel ,
Xaviere Lornage,
A. Reghan Foley,
Masashi Ogasawara,
Nicola Foulds,
Aki Sato,
Simon R. Hammans,
Pinki Munot,
Charlotte M. Fare ,
A. Reghan Foley
and 46 other authors
,
Sandra Donkervoort,
Kevin O’Donovan,
Lin Guo,
Maura Coughlin,
Payam Mohassel ,
Xaviere Lornage,
A. Reghan Foley,
Masashi Ogasawara,
Nicola Foulds,
Aki Sato,
Simon R. Hammans,
Pinki Munot,
Charlotte M. Fare ,
A. Reghan Foley
and 46 other authors
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
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2020
Lara Macchioni ,
Davide Chiasserini,
Letizia Mezzasoma ,
Magdalena Davidescu,
Pier Luigi Orvietani,
Katia Fettucciari ,
Leonardo Salviati ,
Barbara Cellini ,
Ilaria Bellezza
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,
Davide Chiasserini,
Letizia Mezzasoma ,
Magdalena Davidescu,
Pier Luigi Orvietani,
Katia Fettucciari ,
Leonardo Salviati ,
Barbara Cellini ,
Ilaria Bellezza
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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
and 3 other authors
,
Giuseppe Basso,
Placido Navas
and 3 other authors
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells LackingCOQ6
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2017
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
Download from doi.org
Download from doi.org
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