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Leonardo Salviati

university of padua

61H-index
301Paper Count
1.5WCitation Count
Published Papers 131
Publication Date
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Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience
errInternational Journal of Neonatal Screening
IF4
err2026-07-27
err0
errOAAI
errVincenza Gragnaniello; Giacomo Gaiga; Chiara Cazzorla; Elena Porcù; Daniela Gueraldi; Andrea Puma; Christian Loro; Mara Doimo; Leonardo Salviati; Alberto B. Burlina
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Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant
errPARKINSONISM & RELATED DISORDERS
IF3.4
err2026-06-03
err0
PREAI
errLuca Lorenzon; Giulia Bonato; Sofia Pavan; Laura Ludovica Grassi; Valentina D'Onofrio; Leonardo Rigon; Monia Ginevrino; Leonardo Salviati; Andrea Landi; Angelo Antonini; Miryam Carecchio; Andrea Guerra
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Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants—Authors' Reply
errEuropean Journal of Neurology
IF3.9
err2026-06-01
err0
errOAAI
errGiuliana Capece; Renzo Manara; Leonardo Salviati; Carlo Viscomi; Luca Bello; Elena Pegoraro
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Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening
errMolecular Genetics and Metabolism
IF3.5
err2026-05-23
err0
errOAAI
errGragnaniello, Vincenza; Burlina, Alessandro P.; Cazzorla, Chiara; Loro, Christian; Gueraldi, Daniela; Porcu, Elena; Salviati, Leonardo; Burlina, Alberto B.
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Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features
errEuropean Journal of Neurology
IF3.9
err2026-03-01
err0
errOAAI
errCapece, Giuliana; Caumo, Luca; Volta, Sara; Riguzzi, Pietro; Sogus, Elena; Petrosino, Angela; Vianello, Sara; Sabbatini, Daniele; Salviati, Leonardo; Manara, Renzo; Viscomi, Carlo; Soraru, Gianni; Bello, Luca; Pegoraro, Elena
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Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function
errCell Death & Disease
IF9.6
err2026-02-20
err0
errOAAI
errMatteo Baggiani; Maria Andrea Desbats; Valentina Naef; Michela Giacich; Daniele Galatolo; Serena Mero; Sara Zampieri; Valentina Cappello; Agata Valentino; Leonardo Salviati; Filippo Maria Santorelli; Devid Damiani
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Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome
errClinical Case Reports
IF0.6
err2026-02-02
err0
errOAAI
errBolzon, Anna; Caroppo, Francesca; Passaglia, Lisa; Boaretto, Francesca; Salviati, Leonardo; Fortina, Anna Belloni
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Characterization of STRC Gene Conversions by Nanopore Sequencing
errClinical Chemistry
IF6.3
err2026-02-01
err0
PREAI
errRigon, Chiara; Sorrentino, Ugo; Volta, Sara; Prevedello, Francesco; Trevisson, Eva; Salviati, Leonardo; Viscomi, Carlo; Cassina, Matteo
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White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification
errMovement Disorders
IF7.6
err2026-02-01
err0
errOAAI
errLibrizzi, Giovanni; Bonato, Giulia; Corazza, Matilde; Guerra, Irene; Pistonesi, Francesca; Bertolin, Cinzia; Salviati, Leonardo; Antonini, Angelo; Manara, Renzo; Carecchio, Miryam
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Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature
errEuropean Journal of Neurology
IF3.9
err2026-01-16
err0
errOAAI
errGiulia Tammam; Luisa Villa; Richard J. L. F. Lemmers; Jonathan Pini; Abderhmane Slioui; Laura Bouchareychas; Yann David; Mihai-Bogdan Ioncea; Leonardo Salviati; Michele Cavalli; Andra Ezaru; Angela Puma; Jan J. Verschuuren; Silvère M. van der Maarel; Sabrina Sacconi
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A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease
errCell Death & Disease
IF9.6
err2025-12-10
err0
errOAAI
errDavide Doni; Deborah Grifagni; Federica Cavion; Bianca Buchignani; Roberta Battini; Elisa Baschiera; Maria Andrea Desbats; Rosa Pasquariello; Giuseppina Covello; Eva De Pascale; Alice Boarolo; Ilaria Cestonaro; Denis Badocco; Paolo Pastore; Geppo Sartori; Oliver Stehling; Roland Lill; Filippo M. Santorelli; Leonardo Salviati; Simone Ciofi-Baffoni; Paola Costantini
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Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction
errNature Communications
IF15.7
err2025-11-10
err0
errOAAI
errMarco Scalabrin; Eloisa Turco; Ilaria Davigo; Riccardo Filadi; Leonardo Nogara; Gaia Gherardi; Lucia Barazzuol; Andrea Armani; Giulia Trani; Samuele Negro; Anais Franco-Romero; Yorrick Jaspers; Elisa Baschiera; Rossella De Cegli; Eugenio Del Prete; Tito Cali; Bert Blaauw; Leonardo Salviati; Michela Rigoni; Cristina Mammucari; Sylvie Caspar-Bauguil; Cedric Moro; Paola Pizzo; Marco Sandri; Stephan Kemp; Vanina Romanello
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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
errThe Breast
IF0
err2025-10-22
err0
errOAAI
errNiccolò Di Giosaffatte; Paola Daniele; Francesco Petrizzelli; Chiara Iacovino; Chiara Canciani; Maria Luisa Garau; Claudia Santoro; Valentina Trevisan; Arianna Panfili; Stefania Cavone; Valentina Guida; Maria Cecilia D’Asdia; Laura Bernardini; Silvia Majore; Alessandro Ferraris; Michele Valiante; Francesca Gensini; Francesca Clementina Radio; Giada Tortora; Matteo Cassina; Giuseppina Miele; Manuela Priolo; Fabio Sirchia; Ludovica Piccinno; Elisabetta Flex; Giuseppe Zampino; Maurizio Genuardi; Vincenzo Nigro; Leonardo Salviati; Laura Papi; Paola Grammatico; Chiara Leoni; Giulio Piluso; Sandra Giustini; Tommaso Mazza; Meena Upadhyaya; Marco Tartaglia; Eva Trevisson; Alessandro De Luca
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A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)
errJIMD REPORTS
IF1.8
err2025-09-28
err0
errOAAI
errGragnaniello, Vincenza; Galderisi, Alfonso; Tucci, Sara; Doimo, Mara; Caterino, Marianna; Loro, Christian; Cazzorla, Chiara; Ruoppolo, Margherita; Salviati, Leonardo; Burlina, Alberto B.
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Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
errITALIAN JOURNAL OF PEDIATRICS
IF3.1
err2025-05-13
err0
errOAAI
errGragnaniello, Vincenza; Puma, Andrea; Gueraldi, Daniela; D'Errico, Ignazio; Cazzorla, Chiara; Loro, Christian; Porcu, Elena; Salviati, Leonardo; Burlina, Alberto B.
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Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2025-04-24
err0
errOAAI
errRiccardi, V; Viscomi, CF; Sandri, M; D'Alessandro, A; Dzieciatkowska, M; Stephenson, D; Federti, E; Hermann, A; Salviati, L; Siciliano, A; Andolfo, I; Alper, SL; Ceolan, J; Iolascon, A; Vattemi, G; Danek, A; Walker, RH; Mensch, A; Otto, M; Deschauer, M; Armbrust, M; Beninca, C; Salari, V; Fabene, P; Peikert, K; De Franceschi, L
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Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort
errMOVEMENT DISORDERS CLINICAL PRACTICE
IF2.7
err2025-04-04
err0
errOAAI
errGiulia Bonato MD; Marta Campagnolo MD, PhD; Aron Emmi PhD; Valentina Misenti PhD; Tommaso Carrer MD; Carmelo Fogliano MD; Leonardo Salviati MD, PhD
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Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes
errCLINICAL GENETICS
IF2.3
err2025-03-06
err0
PREAI
errCamilla Meossi; Alessandro De Falco; Marco Marchi; Anna Rubegni; Stefano Pagano; Rosanna Trovato; Claudia Nesti; Flavio Dal Canto; Emanuele Bartolini; Leonardo Salviati; Filippo Maria Santorelli
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Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2025-02-11
err0
errOAAI
errEmmi, Aron; Bonato, Giulia; Tushevski, Aleksandar; Bertolin, Cinzia; Cavallieri, Francesco; Porzionato, Andrea; Antonini, Angelo; Salviati, Leonardo; Carecchio, Miryam
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Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-01-07
err0
errOAAI
errPuma, Angela; Tammam, Giulia; Ezaru, Andra; Slioui, Abderhmane; Torchia, Eleonora; Tasca, Giorgio; Villa, Luisa; Cavalli, Michele; Salviati, Leonardo; van der Vliet, Patrick J.; Lemmers, Richard J. L. F.; Pini, Jonathan; van der Maarel, Silvere M.; Sacconi, Sabrina
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Research Directions

The data has not been retrieved yet.
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