Sfoglia per Autore
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
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories
file con accesso da definire2006 Ferlini, Alessandra; Ravani, A; Venturoli, A; Trabanelli, Cecilia; Masieri, Mt; Brandi, A; Dolcini, B; Rimessi, Paola; Gualandi, Francesca; Calzolari, Elisa
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
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
file con accesso da definire2007 Angelin, A; Tiepolo, T; Sabatelli, Patrizia; Grumati, P; Bergamin, N; Golfieri, C; Mattioli, E; Gualandi, Francesca; Ferlini, Alessandra; Merlini, Luciano; Maraldi, Nm; Bonaldo, P; Bernardi, P.
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
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.
T.P.2.07 The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model
2008 Rimessi, P.; Sabatelli, P.; Fabris, M.; Braghetta, P.; Bassi, E.; Spitali, P.; Vattemi, G.; Tomelleri, G.; Mari, L.; Perrone, D.; Medici, A.; Neri, M.; Bovolenta, M.; Martoni, E.; Maraldi, N.; Bonaldo, P.; Gualandi, F.; Merlini, L.; Tondelli, L.; Sparnacci, K.; Caputo, A.; Laus, M.; Ferlini, A.
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
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
file con accesso da definire2008 Merlini, Luciano; Martoni, Elena; Grumati, P; Sabatelli, Patrizia; Squarzoni, S; Urciuolo, A; Ferlini, Alessandra; Gualandi, Francesca; Bonaldo, P.
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1
file con accesso da definire2008 Imbrici, P; Gualandi, Francesca; D'Adamo, Mc; Masieri, Mt; Cudia, P; De Grandis, D; Mannucci, R; Nicoletti, I; Tucker, Sj; Ferlini, Alessandra; Pessia, M.
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
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring
2009 Neri, M; Falzarano, Ms; Fabris, M; Bovolenta, M; Bassi, E; Perrone, D; Medici, A; Sabatelli, P; Merlini, L; Gualandi, F; Rimessi, P; Ferlini, A
Autosomal recessive Bethlem myopathy
file con accesso da definire2009 Gualandi, Francesca; Urciuolo, A; Martoni, Elena; Sabatelli, Patrizia; Squarzoni, S; Bovolenta, Matteo; Messina, S; Mercuri, E; Franchella, Andrea; Ferlini, Alessandra; Bonaldo, P; Merlini, Luciano
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
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
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008
file con accesso da definire2009 Berto, Anna; Pellati, Daniela; Castiglione, Alessandro; Busi, Micol; Trevisi, Patrizia; Gualandi, Francesca; Ferlini, Alessandra; Martini, Alessandro
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence
file con accesso da definire2009 Vattemi, G; Tonin, P; Neri, Marcella; Marini, M; Gualandi, Francesca; Guglielmi, V; Ferlini, Alessandra; Tomelleri, G.
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
file con accesso da definire2009 Ghezzi, D; Viscomi, C; Ferlini, Alessandra; Gualandi, Francesca; Mereghetti, P; De Grandis, D; Zeviani, M.
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
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy
file con accesso da definire2009 Martoni, Elena; Urciuolo, A; Sabatelli, P; Fabris, Marina; Bovolenta, Matteo; Neri, Marcella; Grumati, P; D'Amico, A; Pane, M; Mercuri, E; Bertini, E; Merlini, Luciano; Bonaldo, P; Ferlini, Alessandra; Gualandi, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 |
| Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories | 2006 | Ferlini, Alessandra; Ravani, A; Venturoli, A; Trabanelli, Cecilia; Masieri, Mt; Brandi, A; Dolcin...i, B; Rimessi, Paola; Gualandi, Francesca; Calzolari, Elisa | file con accesso da definire |
| 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 |
| Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins | 2007 | Angelin, A; Tiepolo, T; Sabatelli, Patrizia; Grumati, P; Bergamin, N; Golfieri, C; Mattioli, E; G...ualandi, Francesca; Ferlini, Alessandra; Merlini, Luciano; Maraldi, Nm; Bonaldo, P; Bernardi, P. | 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 | |
| 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 |
| T.P.2.07 The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model | 2008 | Rimessi, P.; Sabatelli, P.; Fabris, M.; Braghetta, P.; Bassi, E.; Spitali, P.; Vattemi, G.; Tomel...leri, G.; Mari, L.; Perrone, D.; Medici, A.; Neri, M.; Bovolenta, M.; Martoni, E.; Maraldi, N.; Bonaldo, P.; Gualandi, F.; Merlini, L.; Tondelli, L.; Sparnacci, K.; Caputo, A.; Laus, M.; Ferlini, A. | |
| 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 | |
| Autosomal recessive myosclerosis myopathy is a collagen VI disorder | 2008 | Merlini, Luciano; Martoni, Elena; Grumati, P; Sabatelli, Patrizia; Squarzoni, S; Urciuolo, A; Fer...lini, Alessandra; Gualandi, Francesca; Bonaldo, P. | file con accesso da definire |
| A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 | 2008 | Imbrici, P; Gualandi, Francesca; D'Adamo, Mc; Masieri, Mt; Cudia, P; De Grandis, D; Mannucci, R; ...Nicoletti, I; Tucker, Sj; Ferlini, Alessandra; Pessia, M. | file con accesso da definire |
| 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 | |
| Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring | 2009 | Neri, M; Falzarano, Ms; Fabris, M; Bovolenta, M; Bassi, E; Perrone, D; Medici, A; Sabatelli, P; M...erlini, L; Gualandi, F; Rimessi, P; Ferlini, A | |
| Autosomal recessive Bethlem myopathy | 2009 | Gualandi, Francesca; Urciuolo, A; Martoni, Elena; Sabatelli, Patrizia; Squarzoni, S; Bovolenta, M...atteo; Messina, S; Mercuri, E; Franchella, Andrea; Ferlini, Alessandra; Bonaldo, P; Merlini, Luciano | 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 | |
| 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 | |
| Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 | 2009 | Berto, Anna; Pellati, Daniela; Castiglione, Alessandro; Busi, Micol; Trevisi, Patrizia; Gualandi,... Francesca; Ferlini, Alessandra; Martini, Alessandro | file con accesso da definire |
| Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence | 2009 | Vattemi, G; Tonin, P; Neri, Marcella; Marini, M; Gualandi, Francesca; Guglielmi, V; Ferlini, Ales...sandra; Tomelleri, G. | file con accesso da definire |
| Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. | 2009 | Ghezzi, D; Viscomi, C; Ferlini, Alessandra; Gualandi, Francesca; Mereghetti, P; De Grandis, D; Ze...viani, M. | file con accesso da definire |
| 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 |
| Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy | 2009 | Martoni, Elena; Urciuolo, A; Sabatelli, P; Fabris, Marina; Bovolenta, Matteo; Neri, Marcella; Gru...mati, P; D'Amico, A; Pane, M; Mercuri, E; Bertini, E; Merlini, Luciano; Bonaldo, P; Ferlini, Alessandra; Gualandi, F. | file con accesso da definire |
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