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Leonardo Salviati

university of padua

61H指数
301论文数
1.5W被引数
收录论文 131
发表时间
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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
err分享
err收藏
Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant内囊苍白球深部脑刺激对具有纯合DYT-AOPEP变异的非洲起源患者的长期反应
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
err分享
err收藏
Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants—Authors' Reply致编辑的信：胃肠假性梗阻并非POLG1变异的不常见表型表现——作者回复
errEuropean Journal of Neurology
IF3.9
err2026-06-01
err0
errOAAI
errGiuliana Capece; Renzo Manara; Leonardo Salviati; Carlo Viscomi; Luca Bello; Elena Pegoraro
err分享
err收藏
Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening新生儿筛查发现的法布里病无症状期儿科患者中的炎症和自噬功能障碍
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.
err分享
err收藏
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like FeaturesWernicke脑病合并具有MNGIE样特征的独特POLG表型
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
err分享
err收藏
Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial functionHPDL的功能缺失变异通过改变线粒体功能损害人类大脑皮层发育
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
err分享
err收藏
Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome在一例12岁戈尔茨-戈尔林综合征女孩中鉴定出PORCN基因c.1093C>T (p.Arg365Trp)变异
errClinical Case Reports
IF0.6
err2026-02-02
err0
errOAAI
errBolzon, Anna; Caroppo, Francesca; Passaglia, Lisa; Boaretto, Francesca; Salviati, Leonardo; Fortina, Anna Belloni
err分享
err收藏
Characterization of STRC Gene Conversions by Nanopore Sequencing通过纳米孔测序表征STRC基因转换
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
err分享
err收藏
White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification白质很重要：一项关于原发性脑钙化的临床相关磁共振成像研究
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
err分享
err收藏
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
err分享
err收藏
A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular diseaseFDX2基因的一个新型突变，为MEOAL线粒体神经肌肉疾病的发病机制提供了新的见解。
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
err分享
err收藏
Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction骨骼肌中过氧化物酶体-线粒体相互作用的改变会加速肌肉功能障碍
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
err分享
err收藏
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer神经纤维瘤病1型相关乳腺癌的亚型分布、临床特征及分子谱
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
err分享
err收藏
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)对一名合并丙戊酸和甲基丙二酸尿症（CMAMMA）患者的深入临床与生化特征分析
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.
err分享
err收藏
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails基于神经放射学发现的戊二酸尿症I型诊断：当新生儿筛查失败时
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.
err分享
err收藏
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVPS13A缺乏导致的骨骼肌过早衰老与自噬功能障碍有关
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
err分享
err收藏
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE CohortProgranulin突变表现为帕金森病：PADUA-CESNE队列的一组病例研究
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
err分享
err收藏
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical PhenotypesSDHA基因突变对酵母生长和线粒体功能的影响。案例研究：将遗传发现与临床表型联系起来。
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
err分享
err收藏
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker原发性家族性脑钙化中的皮肤钙沉积: 一种新的潜在生物标志物
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
err分享
err收藏
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
err分享
err收藏

研究方向

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