Sfoglia per Autore
X-linked dilated cardiomyopathy and the dystrophin gene.
file con accesso da definire1999 Ferlini, Alessandra; Sewry, C; Melis, Ma; Mateddu, A; Muntoni, F.
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?
file con accesso da definire1999 Muntoni, F; Ferlini, Alessandra; Sewry, C; Mateddu, A; Marrosu, G; Porcu, M; DI LENARDA, A; Sinagra, G; Mestroni, L.
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
file con accesso da definire1999 D'Alessandro, M; Naom, I; Ferlini, Alessandra; Sewry, C; Dubowitz, V; Muntoni, F.
Transthyretin amyloidosis and superficial siderosis of the CNS
file con accesso da definire1999 Mascalchi, M; Salvi, F; Pirini, Mg; D'Errico, A; Ferlini, Alessandra; Lolli, F; Plasmati, R; Tessa, C; Villari, N; Tassinari, Ca
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47
file con accesso da definire2000 Ferlini, Alessandra; Obici, L; Manzati, E; Biadi, O; Tarantino, E; Conigli, P; Merlini, G; D'Alessandro, M; Mazzaferro, V; Tassinari, Ca; Salvi, F.
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
file con accesso da definire2000 Naom, I; D'Alessandro, M; Sewry, Ca; Jardine, P; Ferlini, Alessandra; Moss, T; Dubowitz, V; Muntoni, F.
FUNCTIONAL ANALYISIS OF INTRONS AND GENE REGULATORY SEQUENCES AIMED AT TARGETED MODULATION OF GENE EXPRESSION (Progetto generale Eu FP5 STREP Finger, QLG2-CT-1999-00920)
file con accesso da definire2000 Ferlini, Alessandra
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
file con accesso da definire2001 Vacca, M; Filippini, F; Budillon, A; Rossi, V; DELLA RAGIONE, Floriana; DE BONIS, Ml; Mercadante, G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, C; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M.
Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR
file con accesso da definire2001 Feriotto, Giordana; Ferlini, Alessandra; Ravani, A; Calzolari, Elisa; Mischiati, Carlo; Bianchi, Nicoletta; Gambari, Roberto
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy
file con accesso da definire2001 Bastianutto, C; Bestard, Ja; Lahnakoski, K; Broere, D; DE VISSER, M; Zaccolo, M; Pozzan, T; Ferlini, Alessandra; Muntoni, F; Patarnello, T; Klamut, Hj
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
file con accesso da definire2001 Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, Cecilia; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M.
Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy.
file con accesso da definire2001 Guidetti, D; Sabadini, R; Ferlini, Alessandra; Torrente, I.
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
file con accesso da definire2002 Gualandi, Francesca; Ravani, A; Berto, Anna; Sensi, Alberto; Trabanelli, Cecilia; Falciano, Francesco; Trevisi, Patrizia; Mazzoli, M; Tibiletti, Mg; Cristofari, E; Burdo, S; Ferlini, Alessandra; Martini, Alessandro; Calzolari, Elisa
A strategy to identify and modulate sequences-motifs relevant for the pathogenesis of dystrophinopathies by functional characterisation of non-coding regions involved in dystrophin gene expression regulation (Telethon GGPO2112)
file con accesso da definire2002 Ferlini, Alessandra
Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia.
file con accesso da definire2002 Mascalchi, M; Cosottini, M; Lolli, F; Salvi, F; Tessa, C; Macucci, M; Tosetti, M; Plasmati, R; Ferlini, Alessandra; Tassinari, Ca; Villari, N.
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene
file con accesso da definire2002 Toffolatti, L; Cardazzo, B; Nobile, C; Danieli, Ga; Gualandi, Francesca; Muntoni, F; Abbs, S; Zanetti, P; Angelini, C; Ferlini, Alessandra; Fanin, M; Patarnello, T.
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.
file con accesso da definire2003 Gualandi, Francesca; Trabanelli, Cecilia; Rimessi, Paola; Calzolari, Elisa; Toffolatti, L; Patarnello, T; Kunz, G; Muntoni, F; Ferlini, Alessandra
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality
file con accesso da definire2003 Gualandi, Francesca; Rimessi, Paola; Cardazzo, B; Toffolatti, L; Dunckley, Mg; Calzolari, Elisa; Patarnello, T; Muntoni, F; Ferlini, Alessandra
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu
file con accesso da definire2003 Salvi, F; Scaglione, C; Michelucci, R; Linke, Rp; Obici, L; Ravani, A; Rimessi, P; Ferlini, Alessandra; Meletti, S; Cavallaro, T; Tassinari, Ca; Martinelli, P.
Dystrophin and mutations: One gene, several proteins, multiple phenotypes
file con accesso da definire2003 Muntoni, F; Torelli, S; Ferlini, Alessandra
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| X-linked dilated cardiomyopathy and the dystrophin gene. | 1999 | Ferlini, Alessandra; Sewry, C; Melis, Ma; Mateddu, A; Muntoni, F. | file con accesso da definire |
| Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned? | 1999 | Muntoni, F; Ferlini, Alessandra; Sewry, C; Mateddu, A; Marrosu, G; Porcu, M; DI LENARDA, A; Sinag...ra, G; Mestroni, L. | file con accesso da definire |
| Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? | 1999 | D'Alessandro, M; Naom, I; Ferlini, Alessandra; Sewry, C; Dubowitz, V; Muntoni, F. | file con accesso da definire |
| Transthyretin amyloidosis and superficial siderosis of the CNS | 1999 | Mascalchi, M; Salvi, F; Pirini, Mg; D'Errico, A; Ferlini, Alessandra; Lolli, F; Plasmati, R; Tess...a, C; Villari, N; Tassinari, Ca | file con accesso da definire |
| Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47 | 2000 | Ferlini, Alessandra; Obici, L; Manzati, E; Biadi, O; Tarantino, E; Conigli, P; Merlini, G; D'Ales...sandro, M; Mazzaferro, V; Tassinari, Ca; Salvi, F. | file con accesso da definire |
| Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy. | 2000 | Naom, I; D'Alessandro, M; Sewry, Ca; Jardine, P; Ferlini, Alessandra; Moss, T; Dubowitz, V; Munto...ni, F. | file con accesso da definire |
| FUNCTIONAL ANALYISIS OF INTRONS AND GENE REGULATORY SEQUENCES AIMED AT TARGETED MODULATION OF GENE EXPRESSION (Progetto generale Eu FP5 STREP Finger, QLG2-CT-1999-00920) | 2000 | Ferlini, Alessandra | file con accesso da definire |
| MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region | 2001 | Vacca, M; Filippini, F; Budillon, A; Rossi, V; DELLA RAGIONE, Floriana; DE BONIS, Ml; Mercadante,... G; Manzati, Elisa; Gualandi, Francesca; Bigoni, Stefania; Trabanelli, C; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M. | file con accesso da definire |
| Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR | 2001 | Feriotto, Giordana; Ferlini, Alessandra; Ravani, A; Calzolari, Elisa; Mischiati, Carlo; Bianchi, ...Nicoletta; Gambari, Roberto | file con accesso da definire |
| Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy | 2001 | Bastianutto, C; Bestard, Ja; Lahnakoski, K; Broere, D; DE VISSER, M; Zaccolo, M; Pozzan, T; Ferli...ni, Alessandra; Muntoni, F; Patarnello, T; Klamut, Hj | file con accesso da definire |
| Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. | 2001 | Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, Elisa; Gualandi, Francesca...; Bigoni, Stefania; Trabanelli, Cecilia; Pini, G; Calzolari, Elisa; Ferlini, Alessandra; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; Macdonald, F; Kerr, A; Dhanjal, S; Hulten, M. | file con accesso da definire |
| Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. | 2001 | Guidetti, D; Sabadini, R; Ferlini, Alessandra; Torrente, I. | file con accesso da definire |
| Exploring the clinical and epidemiological complexity of GJB2-linked deafness. | 2002 | Gualandi, Francesca; Ravani, A; Berto, Anna; Sensi, Alberto; Trabanelli, Cecilia; Falciano, Franc...esco; Trevisi, Patrizia; Mazzoli, M; Tibiletti, Mg; Cristofari, E; Burdo, S; Ferlini, Alessandra; Martini, Alessandro; Calzolari, Elisa | file con accesso da definire |
| A strategy to identify and modulate sequences-motifs relevant for the pathogenesis of dystrophinopathies by functional characterisation of non-coding regions involved in dystrophin gene expression regulation (Telethon GGPO2112) | 2002 | Ferlini, Alessandra | file con accesso da definire |
| Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia. | 2002 | Mascalchi, M; Cosottini, M; Lolli, F; Salvi, F; Tessa, C; Macucci, M; Tosetti, M; Plasmati, R; Fe...rlini, Alessandra; Tassinari, Ca; Villari, N. | file con accesso da definire |
| Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene | 2002 | Toffolatti, L; Cardazzo, B; Nobile, C; Danieli, Ga; Gualandi, Francesca; Muntoni, F; Abbs, S; Zan...etti, P; Angelini, C; Ferlini, Alessandra; Fanin, M; Patarnello, T. | file con accesso da definire |
| Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. | 2003 | Gualandi, Francesca; Trabanelli, Cecilia; Rimessi, Paola; Calzolari, Elisa; Toffolatti, L; Patarn...ello, T; Kunz, G; Muntoni, F; Ferlini, Alessandra | file con accesso da definire |
| Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality | 2003 | Gualandi, Francesca; Rimessi, Paola; Cardazzo, B; Toffolatti, L; Dunckley, Mg; Calzolari, Elisa; ...Patarnello, T; Muntoni, F; Ferlini, Alessandra | file con accesso da definire |
| Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu | 2003 | Salvi, F; Scaglione, C; Michelucci, R; Linke, Rp; Obici, L; Ravani, A; Rimessi, P; Ferlini, Aless...andra; Meletti, S; Cavallaro, T; Tassinari, Ca; Martinelli, P. | file con accesso da definire |
| Dystrophin and mutations: One gene, several proteins, multiple phenotypes | 2003 | Muntoni, F; Torelli, S; Ferlini, Alessandra | file con accesso da definire |
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