DUGA, STEFANO

DUGA, STEFANO  

Dipartimento Scienze Biomediche  

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Titolo Data di pubblicazione Autore(i) File
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 1-gen-2017 Straniero, V; Zanotto, C; Straniero, L; Casiraghi, A; Duga, S; Radaelli, A; De Giuli Morghen, C; Valoti, E
A Frequent Oligogenic Involvement in Congenital Hypothyroidism 1-gen-2017 de Filippis, T; Gelmini, G; Paraboschi, E; Vigone, Mc; Di Frenna, M; Marelli, F; Bonomi, M; Cassio, A; Larizza, D; Moro, M; Radetti, G; Salerno, M; Ardissino, D; Weber, G; Gentilini, D; Guizzardi, F; Duga, S; Persani, L.
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 1-gen-2018 Samarani, M; Loberto, N; Solda, G; Straniero, L; Asselta, R; Duga, S; Lunghi, G; Zucca, Fa; Mauri, L; Ciampa, Mg; Schiumarini, D; Bassi, R; Giussani, P; Chiricozzi, E; Prinetti, A; Aureli, M; Sonnino, S.
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 1-gen-2000 Bonati, Mt; Duga, S; Asselta, R; Ferinistrambi, L; Oldani, A; Zucconi, M; Malcovati, M; Dalpra, L; Tenchini, Ml
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 1-gen-2004 Duga, S; Spena, S; Asselta, R; Peyandi, F; Mahasandana, C; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 1-gen-2004 Spena, S; Asselta, R; Duga, S; Monaldini, L; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 1-gen-2011 Robusto, M; Asselta, Rosanna; Primignani, P; Castorina, P; Benzoni, E; Cesarani, A; Ambrosetti, U; Duga, Stefano; Solda', Giulia
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 1-gen-2007 Bozzao, C; Rimoldi, V; Asselta, R; Landau, M; Ghiotto, R; Tenchini, Ml; DE CRISTOFARO, R; Castaman, G; Duga, S
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 1-gen-2005 Castaman, G; Ghiotto, R; Duga, S; Rodeghiero, F
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 1-gen-2007 Spena, S; Asselta, R; Platè, M; Castaman, G; Duga, S; Tenchini, Ml
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 1-gen-2011 Solda', Giulia; Robusto, M; Asselta, Rosanna; Primignani, P; Coviello, D; Castorina, P; Ambrosetti, U; Duga, Stefano
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 1-gen-2012 Solda', G; Robusto, M; Primignani, P; Castorina, P; Benzoni, E; Cesarani, A; Ambrosetti, U; Asselta, R; Duga, S
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-microRNA processing to its mature forms 1-gen-2011 Robusto, M; Asselta, Rosanna; Duga, Stefano; Solda', Giulia
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 1-gen-2000 Montefusco, Mc; Duga, S; Asselta, R; Santagostino, E; Mancuso, G; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease 1-gen-2020 Boussaad, I; Obermaier, Cd; Hanss, Z; Bobbili, Dr; Bolognin, S; Glaab, E; Wołyńska, K; Weisschuh, N; De Conti, L; May, C; Giesert, F; Grossmann, D; Lambert, A; Kirchen, S; Biryukov, M; Burbulla, Lf; Massart, F; Bohler, J; Cruciani, G; Schmid, B; Kurz-Drexler, A; May, P; Duga, S; Klein, C; Schwamborn, Jc; Marcus, K; Woitalla, D; Vogt Weisenhorn, Dm; Wurst, W; Baralle, M; Krainc, D; Gasser, T; Wissinger, B; Krüger, R
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants 1-gen-2020 Straniero, Letizia; Rimoldi, Valeria; Melistaccio, Giada; Di Fonzo, Alessio; Pezzoli, Gianni; Duga, Stefano; Asselta, Rosanna
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 1-gen-2005 Solda, G; Asselta, R; Ghiotto, R; Tenchini, Ml; Castaman, G; Duga, S
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 1-gen-2020 Asselta, Rosanna; Paraboschi, Elvezia Maria; Mantovani, Alberto; Duga, Stefano
Afibrinogenemia congenita: l’identificazione di una mutazione missense nell’esone 7 del gene per il beta fibrinogeno suggerisce un ruolo del D-domain nell’assemblaggio della proteina 1-gen-1999 Asselta, R; Duga, S; Simonic, T; Santagostino, E; Mannucci, Pm; Malcovati, M; Tenchini, Ml
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 1-gen-2002 Spena, S; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml