Sfoglia per Autore
Correlation between α1-antitrypsin deficiency and SARS-CoV-2 infection: Epidemiological data and pathogenetic hypotheses
2021 Vianello, A.; Guarnieri, G.; Braccioni, F.; Molena, B.; Lococo, S.; Achille, A.; Lionello, F.; Salviati, L.; Caminati, M.; Senna, G.
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model
2021 Matte, A.; Federti, E.; Kung, C.; Kosinski, P. A.; Narayanaswamy, R.; Russo, R.; Federico, G.; Carlomagno, F.; Desbats, M. A.; Salviati, L.; Leboeuf, C.; Valenti, M. T.; Turrini, F.; Janin, A.; Yu, S.; Beneduce, E.; Ronseaux, S.; Iatcenko, I.; Dang, L.; Ganz, T.; Jung, C. -L.; Iolascon, A.; Brugnara, C.; De Franceschi, L.
Newborn screening for fabry disease in northeastern italy: Results of five years of experience
2021 Gragnaniello, V.; Burlina, A. P.; Polo, G.; Giuliani, A.; Salviati, L.; Duro, G.; Cazzorla, C.; Rubert, L.; Maines, E.; Germain, D. P.; Burlina, A. B.
Crosstalk between long-term sublethal oxidative stress and detrimental inflammation as potential drivers for age-related retinal degeneration
2021 Macchioni, L.; Chiasserini, D.; Mezzasoma, L.; Davidescu, M.; Orvietani, P. L.; Fettucciari, K.; Salviati, L.; Cellini, B.; Bellezza, I.
Motor axonal neuropathy associated with GNE mutations
2021 Grecu, N.; Villa, L.; Cavalli, M.; Ristaino, A.; Choumert, A.; Butori, C.; Salviati, L.; Puma, A.; Sacconi, S.; Krahn, M.; Cerino, M.
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
2021 Montioli, R.; Bellezza, I.; Desbats, M. A.; Borri Voltattorni, C.; Salviati, L.; Cellini, B.
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants
2021 Morbidoni, V.; Baschiera, E.; Forzan, M.; Fumini, V.; Ali, D. S.; Giorgi, G.; Buson, L.; Desbats, M. A.; Cassina, M.; Clementi, M.; Salviati, L.; Trevisson, E.
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients.
2021 Doni, Davide; Rigoni, Giovanni; Palumbo, Elisa; Baschiera, Elisa; Peruzzo, Roberta; DE ROSA, Edith; Caicci, Federico; Passerini, Leonardo; Bettio, Daniela; Russo, Antonella; Ildiko, Szabò; SORIANO GARCIA - CUERVA, MARIA EUGENIA; Salviati, Leonardo; Costantini, Paola
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations
2021 Anglani, Franca; Salviati, Leonardo; Cassina, Matteo; Rigato, Matteo; Gobbi, Laura; Calo', Lorenzo
Craniosynostosis is a feature of CHD7-related CHARGE syndrome
2021 De Luca, C.; Picone, S.; Cassina, M.; Marziali, S.; Morlino, S.; Camerota, L.; Tamburrini, G.; Castori, M.; Paolillo, P.; Salviati, L.; Brancati, F.
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina
2021 Montioli, R.; Sgaravizzi, G.; Desbats, M. A.; Grottelli, S.; Voltattorni, C. B.; Salviati, L.; Cellini, B.
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency
2021 Baschiera, E.; Sorrentino, U.; Calderan, C.; Desbats, M. A.; Salviati, L.
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
2021 Mero, S.; Salviati, L.; Leuzzi, V.; Rubegni, A.; Calderan, C.; Nardecchia, F.; Galatolo, D.; Desbats, M. A.; Naef, V.; Gemignani, F.; Novelli, M.; Tessa, A.; Battini, R.; Santorelli, F. M.; Marchese, M.
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I
2020 Polo, G; Gueraldi, D; Giuliani, A; Rubert, L; Cazzorla, C; Salviati, L; Marzollo, A; Biffi, A; Burlina, Ap; Burlina, Alberto
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
2020 Caroppo, Francesca; Cama, ELENA MARIA; Salmaso, Roberto; Bertolin, Cinzia; Salviati, Leonardo; BELLONI FORTINA, Anna
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type i
2020 Polo, G.; Gueraldi, D.; Giuliani, A.; Rubert, L.; Cazzorla, C.; Salviati, L.; Marzollo, A.; Biffi, A.; Burlina, A. P.; Burlina, A. B.
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist
2020 Calò, Lorenzo A; Palazzo, Viviana; Salviati, Leonardo; Anglani, Franca
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
2020 Maguolo, A.; Rodella, G.; Dianin, A.; Nurti, R.; Monge, I.; Rigotti, E.; Cantalupo, G.; Salviati, L.; Tucci, S.; Pellegrini, F.; Molinaro, G.; Lupi, F.; Tonin, P.; Pasini, A.; Campostrini, N.; Ion Popa, F.; Teofoli, F.; Vincenzi, M.; Camilot, M.; Piacentini, G.; Bordugo, A.
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy
2020 Morbidoni, V.; Agolini, E.; Slep, K. C.; Pannone, L.; Zuccarello, D.; Cassina, M.; Grosso, E.; Gai, G.; Salviati, L.; Dallapiccola, B.; Novelli, A.; Martinelli, S.; Trevisson, E.
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
2020 Gragnaniello, Vincenza; Gueraldi, Daniela; Rubert, Laura; Manzoni, Francesca; Cazzorla, Chiara; Giuliani, Antonella; Polo, Giulia; Salviati, Leonardo; Burlina, Alberto
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