SALVIATI, LEONARDO
SALVIATI, LEONARDO
Dipartimento di Salute della Donna e del Bambino - SDB
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.
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
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
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
Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain (Cell Death & Disease, (2023), 14, 12, (805), 10.1038/s41419-023-06320-y)
2024 Doni, D.; Cavion, F.; Bortolus, M.; Baschiera, E.; Muccioli, S.; Tombesi, G.; D'Ettorre, F.; Ottaviani, D.; Marchesan, E.; Leanza, L.; Greggio, E.; Ziviani, E.; Russo, A.; Bellin, M.; Sartori, G.; Carbonera, D.; Salviati, L.; Costantini, P.
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
2024 Mastromoro, G.; Santoro, C.; Motta, M.; Sorrentino, U.; Daniele, P.; Peduto, C.; Petrizzelli, F.; Tripodi, M.; Pinna, V.; Zanobio, M.; Rotundo, G.; Bellacchio, E.; Lepri, F.; Farina, A.; D'Asdia, M. C.; Piceci-Sparascio, F.; Biagini, T.; Petracca, A.; Castori, M.; Melis, D.; Accadia, M.; Traficante, G.; Tarani, L.; Fontana, P.; Sirchia, F.; Paparella, R.; Curro, A.; Benedicenti, F.; Scala, I.; Dentici, M. L.; Leoni, C.; Trevisan, V.; Cecconi, A.; Giustini, S.; Pizzuti, A.; Salviati, L.; Novelli, A.; Zampino, G.; Zenker, M.; Genuardi, M.; Digilio, M. C.; Papi, L.; Perrotta, S.; Nigro, V.; Castellanos, E.; Mazza, T.; Trevisson, E.; Tartaglia, M.; Piluso, G.; De Luca, A.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
2024 Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, Elena; Oliva, Clara; O Callaghan, Maria Del Mar; Paredes-Fuentes, Abraham J; Moreno-Lozano, Pedro J; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R; Rajan, Deepa S; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
2024 Gragnaniello, V.; Cazzorla, C.; Gueraldi, D.; Loro, C.; Porcù, E.; Salviati, L.; Burlina, A. P.; Burlina, A. B.
Non-Motor Symptoms in Primary Familial Brain Calcification
2024 Bonato, G.; Cimino, P.; Pistonesi, F.; Salviati, L.; Bertolin, C.; Carecchio, M.
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
2024 DI IORIO, MARIO VINCENZO; Giovanna Adamo, Ginevra; Sorrentino, Ugo; De Nadai, Katia; Barbaro, Vanessa; Mura, Marco; Pellegrini, Marco; Boaretto, Francesca; Tavolato, Marco; Suppiej, Agnese; Nasini, Francesco; Salviati, Leonardo; Parmeggiani, Francesco
TP53 DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification
2024 Martire, Gaia; Lovisa, Federica; Carraro, Elisa; Rizzato, Domenico; Cesaro, Simone; Mura, Rosa Maria; Tondo, Annalisa; Bertolin, Cinzia; Boaretto, Francesca; Salviati, Leonardo; Biffi, Alessandra; Pillon, Marta; Mussolin, Lara
A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation
2023 Garrì, Federica; Ciprietti, Dario; Lerjefors, Lisa; Landi, Andrea; Pilleri, Manuela; Biundo, Roberta; Salviati, Leonardo; Carecchio, Miryam; Antonini, Angelo
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
2023 Gragnaniello, V.; Gueraldi, D.; Puma, A.; Commone, A.; Cazzorla, C.; Loro, C.; Porcu, E.; Stornaiuolo, M.; Miglioranza, P.; Salviati, L.; Wanders, R. J. A.; Burlina, A.
Correction to: A case of childhood‑onset dystonia‑parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation
2023 Garrì, Federica; Ciprietti, Dario; Lerjefors, Lisa; Landi, Andrea; Pilleri, Manuela; Biundo, Roberta; Salviati, Leonardo; Carecchio, Miryam; Antonini, Angelo