about
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosisAutosomal recessive Bethlem myopathy.A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.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 myopathiesCationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouseTranslation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyExploring Splicing-Switching Molecules For Seckel Syndrome Therapy.PLC-beta2 monitors the drug-induced release of differentiation blockade in tumoral myeloid precursors.Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathyAn engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes.Transcriptional behavior of DMD gene duplications in DMD/BMD males.Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization.Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.Fo ATP synthase C subunit serum levels in patients with ST-segment Elevation Myocardial Infarction: Preliminary findings.Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosisCorrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceExon skipping-mediated dystrophin reading frame restoration for small mutationsRapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
P50
Q21261507-CA837620-5915-4869-B295-7FABE5C2485CQ30933456-21538523-2276-467E-BCCF-BF36C3880CD8Q33387968-9C8B9DCE-C905-4363-A0A0-24770601E94CQ33543362-F8480D37-D3BF-495A-B634-43D9AEC1E392Q33713471-DCE38D44-A3A3-4210-906B-CF56672A3759Q34194689-225576F8-DF41-4A0E-90F1-1C4DFF07781FQ34210855-A59BEBE0-AA49-4A12-917C-8669734551B6Q34380291-1D480756-51A2-4429-8653-79190185E735Q34428766-D909AFB9-8158-4F19-A66A-5D3B493D183CQ36856928-6D9F42E4-7387-4B4F-8802-4C93ABCC583CQ39378013-74E736EA-29B2-4DC4-BAAE-15E57190F01EQ40330756-14F424E2-BBED-41AB-BD3A-01942CDD04A8Q42094546-9F47FBC8-640A-40D0-86E3-BE0DF5C1258BQ42412623-C455F8CC-C57B-4DDC-949B-5FF6535F4A39Q42541172-61997F12-1160-4624-AA73-3B3DE66F5693Q42600111-3BA5C305-F04C-417B-ACEC-52830724E943Q44500645-29C4D24D-068E-4C59-804B-2F3DDC064009Q44758734-B606949F-B675-486E-B5CC-416305F2C159Q45968881-C219E40C-9180-4A5D-9418-A0E2711DC6E4Q50229192-86097FCD-594A-4801-BD12-D35832965F31Q50606761-4F498DF3-0732-44B2-AAB3-1EDE4B57E9CFQ51753135-3F5F737F-98E8-492A-AC80-765A886FAE44Q56097535-0D250DA5-7F07-436B-907F-D794EFAF0A11Q57267443-29B44E52-A95A-47EC-AD17-F506A6F049ECQ57639981-656DC68A-4416-417D-A257-C487F3529F14Q83186412-D3E9D54F-7E79-4DE0-849C-DA272958E834
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Matteo Bovolenta
@ast
Matteo Bovolenta
@en
Matteo Bovolenta
@es
Matteo Bovolenta
@nl
Matteo Bovolenta
@sl
type
label
Matteo Bovolenta
@ast
Matteo Bovolenta
@en
Matteo Bovolenta
@es
Matteo Bovolenta
@nl
Matteo Bovolenta
@sl
prefLabel
Matteo Bovolenta
@ast
Matteo Bovolenta
@en
Matteo Bovolenta
@es
Matteo Bovolenta
@nl
Matteo Bovolenta
@sl
P106
P1153
13006503700
P21
P2798
P31
P496
0000-0002-9937-009X