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Mostrati risultati da 21 a 39 di 39
Data di pubblicazione Titolo Autore(i) Tipo File
1-lug-2019 Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa Aloe, G; M De Sanctis, C; Strafella, C; Cascella, R; Missiroli, F; Cesareo, M; Giardina, E; Ricci, F Articolo su rivista
1-ott-2019 Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene Strafella, C; Caputo, V; Pagliaroli, G; Iozzo, N; Campoli, G; Carboni, S; Peconi, C; Galota, Rm; Zampatti, S; Minozzi, G; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-ott-2019 The Variability of SMCHD1 Gene in FSHD Patients: Evidence of New Mutations Strafella, C; Caputo, V; Galota, R; Campoli, G; Bax, C; Colantoni, L; Minozzi, G; Orsini, C; Politano, L; Tasca, G; Novelli, G; Ricci, E; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 A Novel Smad7 Genetic Variant Mapping on the Genomic Region Targeted by Mongersen Is Associated with Crohn's Disease Davide Di Fusco, ; Marafini, I; Stolfi, C; Edoardo, T; Onali, S; Elisabetta, L; Flavio, C; Stefano, M; Cascella, R; Manzo, L; Borgiani, P; Paolo, G; Antonio Di Sabatino, ; Monteleone, Is; Monteleone, G Articolo su rivista
1-gen-2020 Genetic counseling and NGS screening for recessive LGMD2A families Strafella, C; Caputo, V; Campoli, G; Galota, R; Mela, J; Zampatti, S; Minozzi, G; Sancricca, C; Servidei, S; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes Caputo, V; Strafella, C; Termine, A; Dattola, A; Mazzilli, S; Lanna, C; Cosio, T; Campione, E; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-gen-2020 Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations Sbardella, D; Tundo, Gr; Cunsolo, V; Grasso, G; Cascella, R; Caputo, V; Santoro, Am; Milardi, D; Pecorelli, A; Ciaccio, C; Di Pierro, D; Leoncini, S; Campagnolo, L; Pironi, V; Oddone, F; Manni, P; Foti, S; Giardina, E; De Felice, C; Hayek, J; Curatolo, P; Galasso, C; Valacchi, G; Coletta, M; Graziani, G; Marini, S Articolo su rivista
15-apr-2020 RNAseq-based prioritization revealed COL6A5, COL8A1, COL10A1 and MIR146A as common and differential susceptibility biomarkers for psoriasis and psoriatic arthritis: confirmation from genotyping analysis of 1417 Italian subjects Caputo, V; Strafella, C; Termine, A; Campione, E; Bianchi, L; Novelli, G; Giardina, E; Cascella, R Articolo su rivista
1-mag-2020 Shared (epi)genomic background connecting neurodegenerative diseases and type 2 diabetes Caputo, V; Termine, A; Strafella, C; Giardina, E; Cascella, R Articolo su rivista
1-dic-2020 Investigation of genetic variations of IL6 and IL6R as potential prognostic and pharmacogenetics biomarkers: implications for COVID-19 and neuroinflammatory disorders Strafella, C; Caputo, V; Termine, A; Barati, S; Caltagirone, C; Giardina, E; Cascella, R Articolo su rivista
1-gen-2021 Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions Strafella, C; Caputo, V; Termine, A; Assogna, F; Pellicano, C; Pontieri, Fe; Macchiusi, L; Minozzi, G; Gambardella, S; Centonze, D; Bossù, P; Spalletta, G; Caltagirone, C; Giardina, E; Cascella, R Articolo su rivista
1-gen-2021 Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets Caputo, V; Strafella, C; Termine, A; Fabrizio, C; Ruffo, P; Cusumano, A; Giardina, E; Ricci, F; Cascella, R Articolo su rivista
1-gen-2021 Genetic counselling improves the molecular characterisation of dementing disorders Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E Articolo su rivista
1-apr-2021 Multi-layer picture of neurodegenerative diseases: lessons from the use of big data through artificial intelligence Termine, A; Fabrizio, C; Strafella, C; Caputo, V; Petrosini, L; Caltagirone, C; Giardina, E; Cascella, R Articolo su rivista
1-mag-2021 Genetic determinants highlight the existence of shared etiopathogenetic mechanisms characterizing age-related macular degeneration and neurodegenerative disorders Strafella, C; Caputo, V; Termine, A; Fabrizio, C; Ruffo, P; Potenza, S; Cusumano, A; Ricci, F; Caltagirone, C; Giardina, E; Cascella, R Articolo su rivista
1-giu-2021 Case report: Sars-CoV-2 infection in a vaccinated individual: evaluation of the immunological profile and virus transmission risk Strafella, C; Caputo, V; Guerrera, G; Termine, A; Fabrizio, C; Cascella, R; Picozza, M; Caltagirone, C; Rossini, A; Balice, Mp; Salvia, A; Battistini, L; Borsellino, G; Giardina, E Articolo su rivista
1-lug-2021 Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: a study on 4266 samples Caputo, V; Bax, C; Colantoni, L; Peconi, C; Termine, A; Fabrizio, C; Calvino, G; Luzzi, L; Panunzi, G; Fusco, C; Strafella, C; Cascella, R; Battistini, L; Caltagirone, C; Salvia, A; Sancesario, G; Giardina, E Articolo su rivista
1-ago-2021 Characterization of a natural variant of human NDP52 and its functional consequences on mitophagy Di Rita, A; Angelini, D; Maiorino, T; Caputo, V; Cascella, R; Kumar, M; Tiberti, M; Lambrughi, M; Wesch, N; Löhr, F; Dötsch, V; Carinci, M; D'Acunzo, P; Chiurchiù, V; Papaleo, E; Rogov, V; Giardina, E; Battistini, L; Strappazzon, F Articolo su rivista
Mostrati risultati da 21 a 39 di 39
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