Sfoglia per Autore
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies
file con accesso da definire2011 Gualandi, Francesca; Curci, R; Sabatelli, Patrizia; Martoni, Elena; Bovolenta, Matteo; Maraldi, Mn; Merlini, Luciano; Ferlini, Alessandra
P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing
file con accesso da definire2011 F., Gualandi; S., Brioschi; Falzarano, Maria Sofia; Bovolenta, Matteo; A., Armaroli; C., Trabanelli; P., Rimessi; L., Merlini; E., Mercuri; M., Pane; E., Bertini; A., D’Amico; G., Siciliano; S., Tedeschi; A., Pini; D., De Grandis; T., Mongini; Ferlini, Alessandra
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy
2012 Neri, Marcella; Valli, E; Alfano, G; Bovolenta, Matteo; Spitali, Pietro; Rapezzi, C; Muntoni, F; Banfi, S; Perini, G; Gualandi, Francesca; Ferlini, Alessandra
D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers
file con accesso da definire2012 S., Brioschi; Bovolenta, Matteo; M., Neri; C., Scotton; T., Castrignanò; G., Pesole; E., Bertini; B., Dallapiccola; E., Kotelnikova; F., Gualandi; Ferlini, Alessandra
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
2012 Bovolenta, Matteo; Scotton, Chiara; Falzarano, Ms; Gualandi, F; Ferlini, Alessandra
G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers
file con accesso da definire2012 Bovolenta, Matteo; C., Scotton; P., Bonaldo; P., Bernardi; P., Grumati; F., Gualandi; E., Schwartz; N., Daraselia; E., Kotelnikova; Ferlini, Alessandra
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms
2012 Bovolenta, Matteo; Erriquez, D; Valli, E; Brioschi, Simona; Scotton, Chiara; Neri, Marcella; Falzarano, Ms; Gherardi, S; Fabris, Marina; Rimessi, Paola; Gualandi, Francesca; Perini, G; Ferlini, Alessandra
D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia
file con accesso da definire2012 M., Neri; Bovolenta, Matteo; C., Scotton; D., De Grandis; T., Castrignanò; B., Dallapiccola; F., Gualandi; Ferlini, Alessandra
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy
2012 Gualandi, Francesca; Manzati, Elisa; Sabatelli, Patrizia; Passarelli, Chiara; Bovolenta, Matteo; Pellegrini, Camilla; Perrone, Daniela; Squarzoni, S; Pegoraro, E; Bonaldo, P; Ferlini, Alessandra
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
2012 Brioschi, Simona; Gualandi, Francesca; Scotton, Chiara; Armaroli, Annarita; Bovolenta, Matteo; Falzarano, Ms; Sabatelli, Patrizia; Selvatici, Rita; D'Amico, A; Pane, M; Ricci, G; Siciliano, G; Tedeschi, S; Pini, A; Vercelli, L; De Grandis, D; Mercuri, E; Bertini, E; Merlini, Luciano; Mongini, T; Ferlini, Alessandra
D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies
2012 Neri, M.; Bovolenta, Matteo; Scotton, C.; Castrignanò, T.; Vattemi, G. A. G.; Schwartz, E.; Daraselia, N.; Kotelnikova, E.; Gualandi, F.; Ferlini, Alessandra
Transcriptional enhancement as therapeutic approach of coagulation factor VII promoter mutations
file con accesso da definire2014 Bovolenta, Matteo
Correction of duplications in the DMD gene by a CRISPR/Cas9 approach
file con accesso da definire2014 Bovolenta, Matteo
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
file con accesso da definire2014 Wein, N; Vulin, A; Falzarano, Maria Sofia; Al Khalili Szigyarto, C; Maiti, B; Findlay, A; Heller, K. N; Uhlén, M; Bakthavachalu, B; Messina, S; Vita, G; Passarelli, Chiara; Brioschi, Simona; Bovolenta, Matteo; Neri, Marcella; Gualandi, Francesca; Wilton, S. D; Rodino Klapac, L. R; Yang, Lu; Dunn, D. M; Schoenberg, D. R; Weiss, R. B; Howard, M. T; Ferlini, Alessandra; Flanigan, K. M.
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy
file con accesso da definire2015 Neri, Marcella; Scotton, Chiara; Scapoli, Chiara; Carrieri, Alberto; DI RAIMO, Francesca Romana; Bovolenta, Matteo; Gherardi, Samuele; Armaroli, Annarita; Passarelli, Chiara; D'Amico, Antonio; Bertini, E.; Pane, M.; Mercuri, E.; Pesole, G.; Wenyan, L.; Mingyan, F.; Gualandi, Francesca; Schwartz, E.; Yuryev, A.; Ferlini, Alessandra
Targeted Genome Editing in Spinal Muscular Atrophy
file con accesso da definire2015 A., Lattanzi; Bovolenta, Matteo; S., Martin; V., Mouly; F., Mavilio
Engineered transcription factors (TALE-TF) as potential therapeutic strategy for coagulation factor deficiencies caused by promoter mutations
file con accesso da definire2015 Barbon, E; Pignani, S; Branchini, A; Bernardi, F; Pinotti, M; Bovolenta, M
Crispr/Cas9-based COL7A1 editing for recessive dystrophic epidermolysis bullosa
2015 A., Izmiryan; Bovolenta, Matteo; F., Mavilio; A., Hovnanian
An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis
2015 Marchetti, Giovanna; Girelli, D; Zerbinati, Carlotta; Lunghi, Barbara; Friso, S; Meneghetti, Silvia; Coen, Matteo; Gagliano, Teresa; Guastella, Giuseppe; Bochaton Piallat, Ml; Pizzolo, F; Mascoli, Francesco; Malerba, G; Bovolenta, Matteo; Ferracin, Manuela; Olivieri, O; Bernardi, Francesco; Martinelli, N.
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools
file con accesso da definire2016 Scotton, Chiara; Schwartz, E.; Falzarano, Maria Sofia; Bovolenta, Matteo; Rossi, Rachele; Armaroli, Annarita; AHMED MOHAMMED OSMAN, Hana; Gualandi, Francesca; Neri, Marcella; Lochmuller, H.; Pesole, G.; Sabatelli, Patrizia; Merlini, Luciano; Bonaldo, P.; Muntoni, F.; Gelfi, C.; Lebowitz, M.; Esser, K.; Ferlini, Alessandra
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Macrophages: a minimally invasive tool for monitoring collagen VI myopathies | 2011 | Gualandi, Francesca; Curci, R; Sabatelli, Patrizia; Martoni, Elena; Bovolenta, Matteo; Maraldi, M...n; Merlini, Luciano; Ferlini, Alessandra | file con accesso da definire |
| P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing | 2011 | F., Gualandi; S., Brioschi; Falzarano, Maria Sofia; Bovolenta, Matteo; A., Armaroli; C., Trabanel...li; P., Rimessi; L., Merlini; E., Mercuri; M., Pane; E., Bertini; A., D’Amico; G., Siciliano; S., Tedeschi; A., Pini; D., De Grandis; T., Mongini; Ferlini, Alessandra | file con accesso da definire |
| The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy | 2012 | Neri, Marcella; Valli, E; Alfano, G; Bovolenta, Matteo; Spitali, Pietro; Rapezzi, C; Muntoni, F; ...Banfi, S; Perini, G; Gualandi, Francesca; Ferlini, Alessandra | |
| D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers | 2012 | S., Brioschi; Bovolenta, Matteo; M., Neri; C., Scotton; T., Castrignanò; G., Pesole; E., Bertini;... B., Dallapiccola; E., Kotelnikova; F., Gualandi; Ferlini, Alessandra | file con accesso da definire |
| Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array | 2012 | Bovolenta, Matteo; Scotton, Chiara; Falzarano, Ms; Gualandi, F; Ferlini, Alessandra | |
| G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers | 2012 | Bovolenta, Matteo; C., Scotton; P., Bonaldo; P., Bernardi; P., Grumati; F., Gualandi; E., Schwart...z; N., Daraselia; E., Kotelnikova; Ferlini, Alessandra | file con accesso da definire |
| The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms | 2012 | Bovolenta, Matteo; Erriquez, D; Valli, E; Brioschi, Simona; Scotton, Chiara; Neri, Marcella; Falz...arano, Ms; Gherardi, S; Fabris, Marina; Rimessi, Paola; Gualandi, Francesca; Perini, G; Ferlini, Alessandra | |
| D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia | 2012 | M., Neri; Bovolenta, Matteo; C., Scotton; D., De Grandis; T., Castrignanò; B., Dallapiccola; F., ...Gualandi; Ferlini, Alessandra | file con accesso da definire |
| Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy | 2012 | Gualandi, Francesca; Manzati, Elisa; Sabatelli, Patrizia; Passarelli, Chiara; Bovolenta, Matteo; ...Pellegrini, Camilla; Perrone, Daniela; Squarzoni, S; Pegoraro, E; Bonaldo, P; Ferlini, Alessandra | |
| Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype | 2012 | Brioschi, Simona; Gualandi, Francesca; Scotton, Chiara; Armaroli, Annarita; Bovolenta, Matteo; Fa...lzarano, Ms; Sabatelli, Patrizia; Selvatici, Rita; D'Amico, A; Pane, M; Ricci, G; Siciliano, G; Tedeschi, S; Pini, A; Vercelli, L; De Grandis, D; Mercuri, E; Bertini, E; Merlini, Luciano; Mongini, T; Ferlini, Alessandra | |
| D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies | 2012 | Neri, M.; Bovolenta, Matteo; Scotton, C.; Castrignanò, T.; Vattemi, G. A. G.; Schwartz, E.; Daras...elia, N.; Kotelnikova, E.; Gualandi, F.; Ferlini, Alessandra | |
| Transcriptional enhancement as therapeutic approach of coagulation factor VII promoter mutations | 2014 | Bovolenta, Matteo | file con accesso da definire |
| Correction of duplications in the DMD gene by a CRISPR/Cas9 approach | 2014 | Bovolenta, Matteo | file con accesso da definire |
| Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice | 2014 | Wein, N; Vulin, A; Falzarano, Maria Sofia; Al Khalili Szigyarto, C; Maiti, B; Findlay, A; Heller,... K. N; Uhlén, M; Bakthavachalu, B; Messina, S; Vita, G; Passarelli, Chiara; Brioschi, Simona; Bovolenta, Matteo; Neri, Marcella; Gualandi, Francesca; Wilton, S. D; Rodino Klapac, L. R; Yang, Lu; Dunn, D. M; Schoenberg, D. R; Weiss, R. B; Howard, M. T; Ferlini, Alessandra; Flanigan, K. M. | file con accesso da definire |
| Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy | 2015 | Neri, Marcella; Scotton, Chiara; Scapoli, Chiara; Carrieri, Alberto; DI RAIMO, Francesca Romana; ...Bovolenta, Matteo; Gherardi, Samuele; Armaroli, Annarita; Passarelli, Chiara; D'Amico, Antonio; Bertini, E.; Pane, M.; Mercuri, E.; Pesole, G.; Wenyan, L.; Mingyan, F.; Gualandi, Francesca; Schwartz, E.; Yuryev, A.; Ferlini, Alessandra | file con accesso da definire |
| Targeted Genome Editing in Spinal Muscular Atrophy | 2015 | A., Lattanzi; Bovolenta, Matteo; S., Martin; V., Mouly; F., Mavilio | file con accesso da definire |
| Engineered transcription factors (TALE-TF) as potential therapeutic strategy for coagulation factor deficiencies caused by promoter mutations | 2015 | Barbon, E; Pignani, S; Branchini, A; Bernardi, F; Pinotti, M; Bovolenta, M | file con accesso da definire |
| Crispr/Cas9-based COL7A1 editing for recessive dystrophic epidermolysis bullosa | 2015 | A., Izmiryan; Bovolenta, Matteo; F., Mavilio; A., Hovnanian | |
| An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis | 2015 | Marchetti, Giovanna; Girelli, D; Zerbinati, Carlotta; Lunghi, Barbara; Friso, S; Meneghetti, Silv...ia; Coen, Matteo; Gagliano, Teresa; Guastella, Giuseppe; Bochaton Piallat, Ml; Pizzolo, F; Mascoli, Francesco; Malerba, G; Bovolenta, Matteo; Ferracin, Manuela; Olivieri, O; Bernardi, Francesco; Martinelli, N. | |
| Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools | 2016 | Scotton, Chiara; Schwartz, E.; Falzarano, Maria Sofia; Bovolenta, Matteo; Rossi, Rachele; Armarol...i, Annarita; AHMED MOHAMMED OSMAN, Hana; Gualandi, Francesca; Neri, Marcella; Lochmuller, H.; Pesole, G.; Sabatelli, Patrizia; Merlini, Luciano; Bonaldo, P.; Muntoni, F.; Gelfi, C.; Lebowitz, M.; Esser, K.; Ferlini, Alessandra | file con accesso da definire |
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