Sfoglia per Autore
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
file con accesso da definire2004 Fichera, M; LO GIUDICE, M; Falco, M; Sturnio, M; Amata, S; Calabrese, O; Bigoni, Stefania; Calzolari, E; Neri, Marcella
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
file con accesso da definire2004 Falco, M; Scuderi, C; Musumeci, S; Sturnio, M; Neri, Marcella; Bigoni, Stefania; Caniatti, L; Fichera, M.
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
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia
file con accesso da definire2006 LO GIUDICE, M; Neri, Marcella; Falco, M; Sturnio, M; Calzolari, E; DI BENEDETTO, D; Fichera, M.
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
file con accesso da definire2006 Stevanin, G; Montagna, G; Azzedine, H; Valente, Em; Durr, A; Scarano, V; Bouslam, N; Cassandrini, D; Denora, Ps; Criscuolo, C; Belarbi, S; Orlacchio, A; Jonveaux, P; Silvestri, G; Hernandez, Am; DE MICHELE, G; Tazir, M; Mariotti, C; Brockmann, K; Malandrini, A; VAN DER KNAPP, Ms; Neri, Marcella; Tonekaboni, H; Melone, Ma; Tessa, A; Dotti, Mt; Tosetti, M; Pauri, F; Federico, A; Casali, C; Cruz, Vt; Loureiro, Jl; Zara, F; Forlani, S; Bertini, E; Coutinho, P; Filla, A; Brice, A; Santorelli, Fm
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
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
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
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.
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.
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari
file con accesso da definire2010 Neri, Marcella; Scotton, Chiara; Brioschi, Simona; G., Vattemi; Selvatici, Rita; Gualandi, Francesca; N., Levy; Ferlini, Alessandra
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
2010 Bovolenta, Matteo; Neri, Marcella; Martoni, Elena; Urciuolo, A.; Sabatelli, Patrizia; Fabris, Marina; Grumati, P.; Mercuri, E.; Bertini, E.; Merlini, Luciano; Bonaldo, P.; Ferlini, Alessandra; Gualandi, Francesca
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy
2010 Bovolenta, M; Armaroli, A; Neri, M; Brioschi, S; Fabris, M; Scotton, C; Falzarano, Ms; Rimessi, P; Valli, E; Perini, G; Gualandi, F; Ferlini, A
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation
file con accesso da definire2010 Vattemi, G.; Gualandi, Francesca; Oosterhof, A.; Marini, M.; Tonin, P.; Rimessi, Paola; Neri, Marcella; Guglielmi, V.; Russignan, A.; Poli, C.; van Kuppevelt, T. H.; Ferlini, Alessandra; Tomelleri, G.
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations.
file con accesso da definire2011 Sensi, Alberto; Ceruti, Stefano; Trevisi, Patrizia; Gualandi, Francesca; Busi, Micol; Donati, Ilaria; Neri, Marcella; Ferlini, Alessandra; Martini, Alessandro
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
file con accesso da definire2011 Vattemi, G; Neri, Marcella; Piffer, S; Vicart, P; Gualandi, Francesca; Marini, M; Guglielmi, V; Filosto, M; Tonin, P; Ferlini, Alessandra; Tomelleri, G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia | 2004 | Fichera, M; LO GIUDICE, M; Falco, M; Sturnio, M; Amata, S; Calabrese, O; Bigoni, Stefania; Calzol...ari, E; Neri, Marcella | file con accesso da definire |
| Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. | 2004 | Falco, M; Scuderi, C; Musumeci, S; Sturnio, M; Neri, Marcella; Bigoni, Stefania; Caniatti, L; Fic...hera, M. | file con accesso da definire |
| 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 |
| A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia | 2006 | LO GIUDICE, M; Neri, Marcella; Falco, M; Sturnio, M; Calzolari, E; DI BENEDETTO, D; Fichera, M. | file con accesso da definire |
| Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. | 2006 | Stevanin, G; Montagna, G; Azzedine, H; Valente, Em; Durr, A; Scarano, V; Bouslam, N; Cassandrini,... D; Denora, Ps; Criscuolo, C; Belarbi, S; Orlacchio, A; Jonveaux, P; Silvestri, G; Hernandez, Am; DE MICHELE, G; Tazir, M; Mariotti, C; Brockmann, K; Malandrini, A; VAN DER KNAPP, Ms; Neri, Marcella; Tonekaboni, H; Melone, Ma; Tessa, A; Dotti, Mt; Tosetti, M; Pauri, F; Federico, A; Casali, C; Cruz, Vt; Loureiro, Jl; Zara, F; Forlani, S; Bertini, E; Coutinho, P; Filla, A; Brice, A; Santorelli, Fm | 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 |
| 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 | |
| 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 |
| 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 | |
| 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 |
| 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 |
| NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari | 2010 | Neri, Marcella; Scotton, Chiara; Brioschi, Simona; G., Vattemi; Selvatici, Rita; Gualandi, France...sca; N., Levy; Ferlini, Alessandra | file con accesso da definire |
| Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies | 2010 | Bovolenta, Matteo; Neri, Marcella; Martoni, Elena; Urciuolo, A.; Sabatelli, Patrizia; Fabris, Mar...ina; Grumati, P.; Mercuri, E.; Bertini, E.; Merlini, Luciano; Bonaldo, P.; Ferlini, Alessandra; Gualandi, Francesca | |
| ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy | 2010 | Bovolenta, M; Armaroli, A; Neri, M; Brioschi, S; Fabris, M; Scotton, C; Falzarano, Ms; Rimessi, P...; Valli, E; Perini, G; Gualandi, F; Ferlini, A | |
| Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation | 2010 | Vattemi, G.; Gualandi, Francesca; Oosterhof, A.; Marini, M.; Tonin, P.; Rimessi, Paola; Neri, Mar...cella; Guglielmi, V.; Russignan, A.; Poli, C.; van Kuppevelt, T. H.; Ferlini, Alessandra; Tomelleri, G. | file con accesso da definire |
| LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. | 2011 | Sensi, Alberto; Ceruti, Stefano; Trevisi, Patrizia; Gualandi, Francesca; Busi, Micol; Donati, Ila...ria; Neri, Marcella; Ferlini, Alessandra; Martini, Alessandro | file con accesso da definire |
| Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. | 2011 | Vattemi, G; Neri, Marcella; Piffer, S; Vicart, P; Gualandi, Francesca; Marini, M; Guglielmi, V; F...ilosto, M; Tonin, P; Ferlini, Alessandra; Tomelleri, G. | file con accesso da definire |
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