Search Results - "RIMESSI, P"

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus by Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P

“…Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of…”
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Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes by Ferlini, A, Sabatelli, P, Fabris, M, Bassi, E, Falzarano, S, Vattemi, G, Perrone, D, Gualandi, F, Maraldi, N M, Merlini, L, Sparnacci, K, Laus, M, Caputo, A, Bonaldo, P, Braghetta, P, Rimessi, P

“…Potentially viable therapeutic approaches for Duchenne muscular dystrophy (DMD) are now within reach. Indeed, clinical trials are currently under way. Two…”
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Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene by Gualandi, F., Rimessi, P., Trabanelli, C., Spitali, P., Neri, M., Patarnello, T., Angelini, C., Yau, S.C., Abbs, S., Muntoni, F., Calzolari, E., Ferlini, A.

“…Dystrophin mutations occurring at the 5′ end of the gene frequently behave as exceptions to the “frame rule,” their clinical severity being variable and often…”
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Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization by Bovolenta, M, Rimessi, P, Dolcini, B, Ravani, A, Ferlini, A, Gualandi, F

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Transcriptional behavior of DMD gene duplications in DMD/BMD males by Gualandi, F, Neri, M, Bovolenta, M, Martoni, E, Rimessi, P, Fini, S, Spitali, P, Fabris, M, Pane, M, Angelini, C, Mora, M, Morandi, L, Mongini, T, Bertini, E, Ricci, E, Vattemi, G, Mercuri, E, Merlini, L, Ferlini, A

“…DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions,…”
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Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion by Gualandi, F, Trabanelli, C, Rimessi, P, Calzolari, E, Toffolatti, L, Patarnello, T, Kunz, G, Muntoni, F, Ferlini, A

“…The crystal structure of the human dystrophin actin binding region has been also recently determined, being composed of calponin homology domains occurring in…”
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P3.03 Nanoparticles are effective vehicles for systemic delivery of 2′OMePS antisense oligonucleotides in exon skipping-mediated dystrophin restoration by Ferlini, A, Fabris, M, Bassi, E, Falzarano, S, Perrone, D, Gualandi, F, Bovolenta, M, Sabatelli, P, Merlini, L, Rimessi, P

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P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing by Gualandi, F, Brioschi, S, Falzarano, M.S, Bovolenta, M, Armaroli, A, Trabanelli, C, Rimessi, P, Merlini, L, Mercuri, E, Pane, M, Bertini, E, D’Amico, A, Siciliano, G, Tedeschi, S, Pini, A, Grandis, D. De, Mongini, T, Ferlini, A

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3 DHPLC analysis of CFTR gene: reasons for request and results by Ravani, A, Masieri, M. Taddei, Venturoli, A, Rimessi, P, Trabanelli, C, Carturan, S, Dolcini, B, Brioschi, S, Gualandi, F, Ferlini, A

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P4.01 ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy by Bovolenta, M, Armaroli, A, Neri, M, Brioschi, S, Fabris, M, Scotton, C, Falzarano, M.S, Rimessi, P, Valli, E, Perini, G, Gualandi, F, Ferlini, A

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G.P.13.02 Non-coding RNAs within the DMD gene by Bovolenta, M, Neri, M, Brioschi, S, Fabris, M, Scotton, C, Falzarano, M.S, Rimessi, P, Perini, G, Gualandi, F, Ferlini, A

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G.P.7.03 Identification of Polyadenylated (PolyA+) transcripts within the dystrophin gene with a high density microarray by Bovolenta, M, Spitali, P, Fabris, M, Neri, M, Martoni, E, Falzarano, S, Bassi, E, Rimessi, P, Gualandi, F, Ferlini, A

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T.P.1.01 Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring by Neri, M, Falzarano, M.S, Fabris, M, Bovolenta, M, Bassi, E, Perrone, D, Medici, A, Sabatelli, P, Merlini, L, Gualandi, F, Rimessi, P, Ferlini, A

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G.P.7.04 High Density-comparative genomic hybridization (HD-CGH) array as a tool to detect deep intronic mutations in the dystrophin gene by Bovolenta, M, Fini, S, Neri, M, Fabris, M, Martoni, E, Bassi, E, Spitali, P, Falzarano, S, Trabanelli, C, Venturoli, A, Ashton, E, Abbs, S, Muntoni, F, Rimessi, P, Gualandi, F, Ferlini, A

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T.P.2.06 Modulation of small mutations in dystrophin “skippable” exons: In vitro studies to identify the optimal PS-AONs by Spitali, P, Fabris, M, Falzarano, S, Sabatelli, P, Bovolenta, M, Neri, M, Martoni, E, Bassi, E, Tuffery-Giraud, S, Claustres, M, Cuisset, J.M, Gualandi, F, Rimessi, P, Ferlini, A

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An appropriate diagnostic approach can improve detection of CFTR mutations: the experience in Patients with Classical Form of Cystic Fibrosis coming from an Italian Region with high genetic heterogeneity by Ravani, A, Venturoli, A, Carturan, S, Brioschi, S, Taddei Masieri, M, Fini, S, Trabanelli, C, Dolcini, B, Rimessi, P, Battistini, F, Ambroni, M, Grzincich, G.L, Calzolari, E, Ferlini, A

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G.P.12.05 The topographic distribution of the dystrophin brain isoform in the human cardiac muscle: Implications for the pathogenesis of the x-linked dilated cardiomyopathy by Neri, M, Gualandi, F, Rimessi, P, Bovolenta, M, Alfano, G, Banfi, S, Calzolari, E, Muntoni, F, Ferlini, A

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C.P.1.02 Clinical and histopathological evolution of a calpain-3 deficiency presenting as congenital fiber type disproportion by Vattemi, G, Gualandi, F, Tonin, P, Rimessi, P, Marini, M, Filosto, M, Ferlini, A, Tomelleri, G

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G.P.3.07 Intronic conserved non-coding sequences (CNSs) as a tool to detect non-coding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene by Spitali, P, Fabris, M, Bovolenta, M, Martoni, E, Trabanelli, C, Galluzzi, G, Angelini, C, Gualandi, F, Rimessi, P, Ferlini, A

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G.P.12.09 Designing of a high density microarray for the definition of the dystrophin gene transcriptome by Bovolenta, M, Spitali, P, Fabris, M, Martoni, E, Calzolari, E, Rimessi, P, Gualandi, F, Ferlini, A

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