Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 37

1.

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.

Charton K, Suel L, Henriques SF, Moussu JP, Bovolenta M, Taillepierre M, Becker C, Lipson K, Richard I.

Hum Mol Genet. 2016 Oct 15;25(20):4518-4532. doi: 10.1093/hmg/ddw280. No abstract available.

PMID:
28173117
2.

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.

Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M.

Biochim Biophys Acta. 2017 Jan;1863(1):15-20. doi: 10.1016/j.bbadis.2016.09.011.

PMID:
27639833
3.

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.

Charton K, Suel L, Henriques SF, Moussu JP, Bovolenta M, Taillepierre M, Becker C, Lipson K, Richard I.

Hum Mol Genet. 2016 Aug 23. pii: ddw280. [Epub ahead of print]

PMID:
27554112
4.

Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings.

Campo G, Morciano G, Pavasini R, Bonora M, Sbano L, Biscaglia S, Bovolenta M, Pinotti M, Punzetti S, Rizzo P, Aquila G, Giorgi C, Ferrari R, Pinton P.

Int J Cardiol. 2016 Oct 15;221:993-7. doi: 10.1016/j.ijcard.2016.07.125.

PMID:
27441480
5.

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes.

Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M.

Sci Rep. 2016 Jun 24;6:28304. doi: 10.1038/srep28304.

6.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A.

J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927.

7.

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Brioschi S, Bovolenta M, Neri M, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM.

Nat Med. 2015 May;21(5):537. doi: 10.1038/nm0515-537c. No abstract available.

PMID:
25951531
8.

An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis.

Marchetti G, Girelli D, Zerbinati C, Lunghi B, Friso S, Meneghetti S, Coen M, Gagliano T, Guastella G, Bochaton-Piallat ML, Pizzolo F, Mascoli F, Malerba G, Bovolenta M, Ferracin M, Olivieri O, Bernardi F, Martinelli N.

Thromb Haemost. 2015 Mar;113(3):655-63. doi: 10.1160/TH14-05-0466.

PMID:
25374339
9.

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Brioschi S, Bovolenta M, Neri M, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM.

Nat Med. 2014 Sep;20(9):992-1000. doi: 10.1038/nm.3628. Erratum in: Nat Med. 2015 May;21(5):537. Brioschi, Simona [added]; Bovolenta, Matteo [added]; Neri, Marcella [added]. Nat Med. 2015 May;21(5):537. Nat Med. 2015 Apr;21(4):414.

10.

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

Bovolenta M, Erriquez D, Valli E, Brioschi S, Scotton C, Neri M, Falzarano MS, Gherardi S, Fabris M, Rimessi P, Gualandi F, Perini G, Ferlini A.

PLoS One. 2012;7(9):e45328. doi: 10.1371/journal.pone.0045328.

11.

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.

Gualandi F, Manzati E, Sabatelli P, Passarelli C, Bovolenta M, Pellegrini C, Perrone D, Squarzoni S, Pegoraro E, Bonaldo P, Ferlini A.

Hum Gene Ther. 2012 Dec;23(12):1313-8. doi: 10.1089/hum.2012.109.

12.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

13.

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A.

BMC Med Genet. 2012 Mar 28;13:20. doi: 10.1186/1471-2350-13-20.

14.

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Bovolenta M, Scotton C, Falzarano MS, Gualandi F, Ferlini A.

Hum Mutat. 2012 Mar;33(3):572-81. doi: 10.1002/humu.22017.

PMID:
22223181
15.

Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.

Gualandi F, Curci R, Sabatelli P, Martoni E, Bovolenta M, Maraldi MN, Merlini L, Ferlini AA.

Muscle Nerve. 2011 Jul;44(1):80-4. doi: 10.1002/mus.21999.

PMID:
21488057
16.

Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.

Rimessi P, Fabris M, Bovolenta M, Bassi E, Falzarano S, Gualandi F, Rapezzi C, Coccolo F, Perrone D, Medici A, Ferlini A.

Hum Gene Ther. 2010 Sep;21(9):1137-46. doi: 10.1089/hum.2010.010.

PMID:
20486769
17.

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis.

Ferlini A, Bovolenta M, Neri M, Gualandi F, Balboni A, Yuryev A, Salvi F, Gemmati D, Liboni A, Zamboni P.

BMC Med Genet. 2010 Apr 28;11:64. doi: 10.1186/1471-2350-11-64.

18.

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.

Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.

BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44.

19.

Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization.

Bovolenta M, Rimessi P, Dolcini B, Ravani A, Ferlini A, Gualandi F.

Clin Genet. 2010 May;77(5):503-6. doi: 10.1111/j.1399-0004.2009.01340.x. No abstract available.

PMID:
20002456
20.

Autosomal recessive Bethlem myopathy.

Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L.

Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a.

PMID:
19949035
Items per page

Supplemental Content

Loading ...
Support Center