Sfoglia per Autore
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.
file con accesso da definire2005 Rimessi, Paola; Gualandi, Francesca; Duprez, L; Spitali, Pietro; Neri, Marcella; Merlini, Luciano; Calzolari, Elisa; Muntoni, F; Ferlini, Alessandra
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene
file con accesso da definire2006 Gualandi, Francesca; Rimessi, Paola; Trabanelli, Cecilia; Spitali, Pietro; Neri, Marcella; Patarnello, T; Angelini, C; Yau, Sc; Abbs, S; Muntoni, F; Calzolari, Elisa; Ferlini, Alessandra
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.
file con accesso da definire2006 Rimessi, Paola; Spitali, Pietro; Ando, Y; Mazzaferro, V; Pastorelli, F; Tassinari, Ca; Calzolari, Elisa; Salvi, F; Ferlini, Alessandra
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies
2007 Gualandi, Francesca; Rimessi, Paola; Fini, Sergio; Trabanelli, Cecilia; Venturoli, A; Martoni, Elena; Bovolenta, Matteo; Spitali, Pietro; Fabris, Marina; Merlini, Luciano; Calzolari, Elisa; Ferlini, Alessandra
G.P.3.02 In vivo biodistribution of non-viral systems for oligoribonucleotides delivery
file con accesso da definire2007 Rimessi, Paola; Sabatelli, Patrizia; Gualandi, Francesca; Spitali, Pietro; Bovolenta, Matteo; Martoni, Elena; Fabris, Marina; Nigro, V; Nusco, E; Calzolari, Elisa; Ferlini, Alessandra
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
file con accesso da definire2007 Neri, Marcella; Torelli, S; Brown, S; Ugo, I; Sabatelli, P; Merlini, L; Spitali, Pietro; Rimessi, Paola; Gualandi, Francesca; Sewry, C; Ferlini, Alessandra; Muntoni, F.
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
2008 Bovolenta, Matteo; Neri, Marcella; Fini, Sergio; Fabris, Marina; Trabanelli, Cecilia; Venturoli, A; Martoni, Elena; Bassi, Elena; Spitali, Pietro; Brioschi, Simona; Falzarano, Maria Sofia; Rimessi, Paola; Ciccone, R; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, Luciano; Gualandi, Francesca; Ferlini, Alessandra
Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse
2009 Rimessi, P; Sabatelli, P; Fabris, M; Braghetta, P; Bassi, E; Spitali, P; Vattemi, Ga; Tomelleri, G; Mari, L; Perrone, D; Medici, A; Neri, M; Bovolenta, M; Martoni, E; Maraldi, Nm; Gualandi, F; Merlini, L; Ballestri, M; Tondelli, L; Sparnacci, K; Bonaldo, P; Caputo, A; Laus, M; Ferlini, A
Transcriptional behavior of DMD gene duplications in DMD/BMD males
file con accesso da definire2009 Gualandi, Francesca; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Rimessi, Paola; Fini, Sergio; Spitali, Pietro; Fabris, Marina; Pane, M; Angelini, C; Mora, M; Morandi, L; Mongini, T; Bertini, E; Ricci, E; Vattemi, G; Mercuri, E; Merlini, Luciano; Ferlini, Alessandra
Exon skipping-mediated dystrophin reading frame restoration for small mutations
2009 Spitali, Pietro; Rimessi, Paola; Fabris, Marina; Perrone, Daniela; Falzarano, Maria Sofia; Bovolenta, Matteo; Trabanelli, Cecilia; Mari, Lara; Bassi, Elena; Tuffery, S.; Gualandi, Francesca; Maraldi, N. M.; Sabatelli Giraud, P.; Medici, Alessandro; Merlini, Luciano; Ferlini, Alessandra
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
2009 Rimessi, Paola; Sabatelli, Patrizia; Fabris, Marina; Braghetta, P; Bassi, Elena; Spitali, Pietro; Vattemi, G; Tomelleri, G; Mari, L; Perrone, Daniela; Medici, Alessandro; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Maraldi, N; Gualandi, Francesca; Merlini, Luciano; Balestri, M; Tondelli, L; Sparnacci, K; Bonaldo, P; Caputo, Antonella; Laus, M; Ferlini, Alessandra
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy
file con accesso da definire2010 Ferlini, Alessandra; Medici, Alessandro; Perrone, Daniela; Rimessi, Paola; Spitali, Pietro
ANTISENSE MEDIATED DYSTROPHIN READING FRAME RESTORATION
2010 Spitali, Pietro
Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy
file con accesso da definire2010 Spitali, Pietro; Heemskerk, H; Vossen, Rh; Ferlini, Alessandra; den Dunnen, Jt; 't Hoen, Pa; Aartsma Rus, A.
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
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
file con accesso da definire2014 B., Ayoglu; A., Chaouch; H., Lochmüller; L., Politano; E., Bertini; Spitali, Pietro; M., Hiller; E., Niks; Gualandi, Francesca; F., Pontén; K., Bushby; A., Aartsma Rus; E., Schwartz; Y., Le Priol; V., Straub; M., Uhlén; S., Cirak; F., 't Hoen PA5; Muntoni, ; Ferlini, Alessandra; Jm, Schwenk; P., Nilsson; C., Al Khalili Szigyarto
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures
2018 Hiller, M.; Falzarano, M. S.; Garcia-Jimenez, I.; Sardone, V.; Verheul, R. C.; Popplewell, L.; Anthony, K.; Ruiz-Del-Yerro, E.; Osman, H.; Goeman, J. J.; Mamchaoui, K.; Dickson, G.; Ferlini, A.; Muntoni, F.; Aartsma-Rus, A.; Arechavala-Gomeza, V.; Datson, N. A.; Spitali, P.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. | 2005 | Rimessi, Paola; Gualandi, Francesca; Duprez, L; Spitali, Pietro; Neri, Marcella; Merlini, Luciano...; Calzolari, Elisa; Muntoni, F; Ferlini, Alessandra | file con accesso da definire |
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene | 2006 | Gualandi, Francesca; Rimessi, Paola; Trabanelli, Cecilia; Spitali, Pietro; Neri, Marcella; Patarn...ello, T; Angelini, C; Yau, Sc; Abbs, S; Muntoni, F; Calzolari, Elisa; Ferlini, Alessandra | file con accesso da definire |
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. | 2006 | Rimessi, Paola; Spitali, Pietro; Ando, Y; Mazzaferro, V; Pastorelli, F; Tassinari, Ca; Calzolari,... Elisa; Salvi, F; Ferlini, Alessandra | file con accesso da definire |
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies | 2007 | Gualandi, Francesca; Rimessi, Paola; Fini, Sergio; Trabanelli, Cecilia; Venturoli, A; Martoni, El...ena; Bovolenta, Matteo; Spitali, Pietro; Fabris, Marina; Merlini, Luciano; Calzolari, Elisa; Ferlini, Alessandra | |
G.P.3.02 In vivo biodistribution of non-viral systems for oligoribonucleotides delivery | 2007 | Rimessi, Paola; Sabatelli, Patrizia; Gualandi, Francesca; Spitali, Pietro; Bovolenta, Matteo; Mar...toni, Elena; Fabris, Marina; Nigro, V; Nusco, E; Calzolari, Elisa; Ferlini, Alessandra | file con accesso da definire |
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. | 2007 | Neri, Marcella; Torelli, S; Brown, S; Ugo, I; Sabatelli, P; Merlini, L; Spitali, Pietro; Rimessi,... Paola; Gualandi, Francesca; Sewry, C; Ferlini, Alessandra; Muntoni, F. | file con accesso da definire |
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies | 2008 | Bovolenta, Matteo; Neri, Marcella; Fini, Sergio; Fabris, Marina; Trabanelli, Cecilia; Venturoli, ...A; Martoni, Elena; Bassi, Elena; Spitali, Pietro; Brioschi, Simona; Falzarano, Maria Sofia; Rimessi, Paola; Ciccone, R; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, Luciano; Gualandi, Francesca; Ferlini, Alessandra | |
Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse | 2009 | Rimessi, P; Sabatelli, P; Fabris, M; Braghetta, P; Bassi, E; Spitali, P; Vattemi, Ga; Tomelleri, ...G; Mari, L; Perrone, D; Medici, A; Neri, M; Bovolenta, M; Martoni, E; Maraldi, Nm; Gualandi, F; Merlini, L; Ballestri, M; Tondelli, L; Sparnacci, K; Bonaldo, P; Caputo, A; Laus, M; Ferlini, A | |
Transcriptional behavior of DMD gene duplications in DMD/BMD males | 2009 | Gualandi, Francesca; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Rimessi, Paola; Fini, Ser...gio; Spitali, Pietro; Fabris, Marina; Pane, M; Angelini, C; Mora, M; Morandi, L; Mongini, T; Bertini, E; Ricci, E; Vattemi, G; Mercuri, E; Merlini, Luciano; Ferlini, Alessandra | file con accesso da definire |
Exon skipping-mediated dystrophin reading frame restoration for small mutations | 2009 | Spitali, Pietro; Rimessi, Paola; Fabris, Marina; Perrone, Daniela; Falzarano, Maria Sofia; Bovole...nta, Matteo; Trabanelli, Cecilia; Mari, Lara; Bassi, Elena; Tuffery, S.; Gualandi, Francesca; Maraldi, N. M.; Sabatelli Giraud, P.; Medici, Alessandro; Merlini, Luciano; Ferlini, Alessandra | |
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse | 2009 | Rimessi, Paola; Sabatelli, Patrizia; Fabris, Marina; Braghetta, P; Bassi, Elena; Spitali, Pietro;... Vattemi, G; Tomelleri, G; Mari, L; Perrone, Daniela; Medici, Alessandro; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Maraldi, N; Gualandi, Francesca; Merlini, Luciano; Balestri, M; Tondelli, L; Sparnacci, K; Bonaldo, P; Caputo, Antonella; Laus, M; Ferlini, Alessandra | |
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy | 2010 | Ferlini, Alessandra; Medici, Alessandro; Perrone, Daniela; Rimessi, Paola; Spitali, Pietro | file con accesso da definire |
ANTISENSE MEDIATED DYSTROPHIN READING FRAME RESTORATION | 2010 | Spitali, Pietro | |
Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy | 2010 | Spitali, Pietro; Heemskerk, H; Vossen, Rh; Ferlini, Alessandra; den Dunnen, Jt; 't Hoen, Pa; Aart...sma Rus, A. | 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 | |
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies | 2014 | B., Ayoglu; A., Chaouch; H., Lochmüller; L., Politano; E., Bertini; Spitali, Pietro; M., Hiller; ...E., Niks; Gualandi, Francesca; F., Pontén; K., Bushby; A., Aartsma Rus; E., Schwartz; Y., Le Priol; V., Straub; M., Uhlén; S., Cirak; F., 't Hoen PA5; Muntoni, ; Ferlini, Alessandra; Jm, Schwenk; P., Nilsson; C., Al Khalili Szigyarto | file con accesso da definire |
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures | 2018 | Hiller, M.; Falzarano, M. S.; Garcia-Jimenez, I.; Sardone, V.; Verheul, R. C.; Popplewell, L.; An...thony, K.; Ruiz-Del-Yerro, E.; Osman, H.; Goeman, J. J.; Mamchaoui, K.; Dickson, G.; Ferlini, A.; Muntoni, F.; Aartsma-Rus, A.; Arechavala-Gomeza, V.; Datson, N. A.; Spitali, P. |
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