SALVIATI, LEONARDO
SALVIATI, LEONARDO
Dipartimento di Salute della Donna e del Bambino - SDB
Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant
2026 Lorenzon, L.; Bonato, G.; Pavan, S.; Grassi, L. L.; D'Onofrio, V.; Rigon, L.; Ginevrino, M.; Salviati, L.; Landi, A.; Antonini, A.; Carecchio, M.; Guerra, A.
Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation
2026 Fumini, V.; Gilea, A. I.; Tacchetto, E.; Salviati, L.; Baruffini, E.; Doimo, M.
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features
2026 Capece, Giuliana; Caumo, Luca; Volta, Sara; Riguzzi, Pietro; Sogus, Elena; Petrosino, Angela; Vianello, Sara; Sabbatini, Daniele; Salviati, Leonardo; Manara, Renzo; Viscomi, Carlo; Sorarù, Gianni; Bello, Luca; Pegoraro, Elena
White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification
2026 Librizzi, G.; Bonato, G.; Corazza, M.; Guerra, I.; Pistonesi, F.; Bertolin, C.; Salviati, L.; Antonini, A.; Manara, R.; Carecchio, M.
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)
2025 Gragnaniello, V.; Galderisi, A.; Tucci, S.; Doimo, M.; Caterino, M.; Loro, C.; Cazzorla, C.; Ruoppolo, M.; Salviati, L.; Burlina, A. B.
A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease
2025 Doni, Davide; Grifagni, Deborah; Cavion, Federica; Buchignani, Bianca; Battini, Roberta; Baschiera, Elisa; Desbats, Maria Andrea; Pasquariello, Rosa; Covello, Giuseppina; De Pascale, Eva; Boarolo, Alice; Cestonaro, Ilaria; Badocco, Denis; Pastore, Paolo; Sartori, Geppo; Stehling, Oliver; Lill, Roland; M Santorelli, Filippo; Salviati, Leonardo; Ciofi-Baffoni, Simone; Costantini, Paola
Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction
2025 Scalabrin, Marco; Turco, Eloisa; Davigo, Ilaria; Filadi, Riccardo; Nogara, Leonardo; Gherardi, Gaia; Barazzuol, Lucia; Armani, Andrea; Trani, Giulia; Negro, Samuele; Franco-Romero, Anais; Jaspers, Yorrick; Baschiera, Elisa; De Cegli, Rossella; Del Prete, Eugenio; Cali, Tito; Blaauw, Bert; Salviati, Leonardo; Rigoni, Michela; Mammucari, Cristina; Caspar-Bauguil, Sylvie; Moro, Cedric; Pizzo, Paola; Sandri, Marco; Kemp, Stephan; Romanello, Vanina
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
2025 Gragnaniello, V.; Puma, A.; Gueraldi, D.; D'Errico, I.; Cazzorla, C.; Loro, C.; Porcu, E.; Salviati, L.; Burlina, A. B.
Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy
2025 Bonato, Giulia; Antonini, Angelo; Pistonesi, Francesca; Campagnolo, Marta; Guerra, Andrea; Biundo, Roberta; Pilleri, Manuela; Bertolin, Cinzia; Salviati, Leonardo; Carecchio, Miryam
Marigold and MitoCIAO, two searchable compendia to visualize and functionalize protein complexes during mitochondrial remodeling
2025 Rigoni, Giovanni; Calvo, Enrique; Glytsou, Christina; Carro-Alvarellos, Marta; Noguchi, Masafumi; Semenzato, Martina; Quirin, Charlotte; Caicci, Federico; Meneghetti, Natascia; Sturlese, Mattia; Ishihara, Takaya; Moro, Stefano; Rampazzo, Chiara; Ishihara, Naotada; Bezzo, Fabrizio; Salviati, Leonardo; Vazquez, Jesùs; Sales, Gabriele; Romualdi, Chiara; Antonio Enriquez, Jose; Scorrano, Luca; SORIANO GARCIA - CUERVA, Maria Eugenia
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening
2025 Gragnaniello, V.; Gueraldi, D.; Saracini, A.; Velasquez Rivas, D.; Cazzorla, C.; Salviati, L.; Burlina, A. B.
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy
2025 Riccardi, Veronica; Viscomi, Carlo Fiore; Sandri, Marco; D'Alessandro, Angelo; Dzieciatkowska, Monika; Stephenson, Daniel; Federti, Enrica; Hermann, Andreas; Salviati, Leonardo; Siciliano, Angela; Andolfo, Immacolata; Alper, Seth L; Ceolan, Jacopo; Iolascon, Achille; Vattemi, Gaetano; Danek, Adrian; Walker, Ruth H; Mensch, Alexander; Otto, Markus; Deschauer, Marcus; Armbrust, Moritz; Beninca', Cristiane; Salari, Valentina; Fabene, Paolo; Peikert, Kevin; De Franceschi, Lucia
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort
2025 Bonato, Giulia; Campagnolo, Marta; Emmi, Aron; Misenti, Valentina; Carrer, Tommaso; Fogliano, Carmelo; Salviati, Leonardo; Carecchio, Miryam; Antonini, Angelo
Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience
2025 Gragnaniello, V.; Gaiga, G.; Cazzorla, C.; Porcu, E.; Gueraldi, D.; Puma, A.; Loro, C.; Doimo, M.; Salviati, L.; Burlina, A. B.
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
2025 Emmi, Aron; Bonato, Giulia; Tushevski, Aleksandar; Bertolin, Cinzia; Cavallieri, Francesco; Porzionato, Andrea; Antonini, Angelo; Salviati, Leonardo; Carecchio, Miryam
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
2025 Di Giosaffatte, N.; Daniele, P.; Petrizzelli, F.; Iacovino, C.; Canciani, C.; Garau, M. L.; Santoro, C.; Trevisan, V.; Panfili, A.; Cavone, S.; Guida, V.; D'Asdia, M. C.; Bernardini, L.; Majore, S.; Ferraris, A.; Valiante, M.; Gensini, F.; Radio, F. C.; Tortora, G.; Cassina, M.; Miele, G.; Priolo, M.; Sirchia, F.; Piccinno, L.; Flex, E.; Zampino, G.; Genuardi, M.; Nigro, V.; Salviati, L.; Papi, L.; Grammatico, P.; Leoni, C.; Piluso, G.; Giustini, S.; Mazza, T.; Upadhyaya, M.; Tartaglia, M.; Trevisson, E.; De Luca, A.
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
2024 Calderan, Cristina; Sorrentino, Ugo; Persano, Luca; Trevisson, Eva; Sartori, Geppo; Salviati, Leonardo; Desbats, Maria Andrea
C16ORF70/Mytho promotes healthy ageing in C. elegans and prevents cellular senescence in mammals
2024 Franco-Romero, Anais; Morbidoni, Valeria; Milan, Giulia; Sartori, Roberta; Wulff, Jesper; Romanello, Vanina; Armani, Andrea; Salviati, Leonardo; Conte, Maria; Salvioli, Stefano; Franceschi, Claudio; Buonomo, Viviana; Swoboda, Casey O.; Grumati, Paolo; Pannone, Luca; Martinelli, Simone; Jefferies, Harold B. J.; Dikic, Ivan; Van Der Laan, Jennifer; Cabreiro, Filipe; Millay, Douglas P.; Tooze, Sharon A.; Trevisson, Eva; Sandri, Marco
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
2024 Sorrentino, Ugo; Baschiera, Elisa; Desbats, Maria Andrea; Zuffardi, Orsetta; Salviati, Leonardo; Cassina, Matteo
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
2024 Pelosi, Ludovic; Morbiato, Laura; Burgardt, Arthur; Tonello, Fiorella; Bartlett, Abigail K.; Guerra, Rachel M.; Kazemzadeh Ferizhendi, Katayoun; Desbats, Maria Andrea; Rascalou, Bérengère; Marchi, Marco; Vázquez-Fonseca, Luis; Agosto, Caterina; Zanotti, Giuseppe; Roger-Margueritat, Morgane; Alcázar-Fabra, María; García-Corzo, Laura; Sánchez-Cuesta, Ana; Navas, Plácido; Brea-Calvo, Gloria; Trevisson, Eva; Wendisch, Volker F.; Pagliarini, David J.; Salviati, Leonardo; Pierrel, Fabien