about
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouseAffinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophiesThe absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null MiceAssociation Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.Circulating Biomarkers for Duchenne Muscular Dystrophy.Splice modulating therapies for human disease.Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients.Transcriptional behavior of DMD gene duplications in DMD/BMD males.Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.DMD transcript imbalance determines dystrophin levels.Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands.Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy.Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell culturesFibronectin is a serum biomarker for Duchenne muscular dystrophyDystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanExon skipping-mediated dystrophin reading frame restoration for small mutationsTracking disease progression non-invasively in Duchenne and Becker muscular dystrophiesResponse to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophyBiomarkers of Duchenne muscular dystrophy: current findingsExon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx MiceSimultaneous Enrichment Analysis of all Possible Gene-sets: Unifying Self-Contained and Competitive MethodsLongitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophyTCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
P50
Q33387968-DD19AB59-274E-4C65-9468-956E39C997EFQ33713471-BC7D8194-3135-45E7-B2CA-959D1B211AFBQ33991470-8D883674-741E-4B36-8073-ED17CFB5F7BBQ34210855-88A1FF8B-58C3-442E-8D66-2A79D720C800Q35057217-8D2FADE3-8A33-41D3-8393-FE9B92B4C056Q37396900-5138E001-20CF-46E5-AA52-6217C826B27EQ37610530-9FEB82AF-B278-447F-933C-F72B337A6B3EQ37994280-53164071-130A-48BC-B024-CD4FE6682BECQ39932620-1D572C20-BFEC-4C4F-BF67-3F4EE1F82EC0Q40198410-23FE507B-67B4-44AF-A49D-20714C8FDB2CQ42600111-B7774C2E-7E72-4223-B4E6-DB173EB10C32Q42678903-A2D9D9DC-42FE-45F5-B049-E3837408706DQ43897055-6F2FF9F2-6673-4ACC-B4F9-A6E4544FC1DFQ47115483-E36F6A79-F645-4FA0-A7B0-63BEED22A4E2Q48539566-494CB366-395A-4344-8999-84F91C3764EBQ48543939-FD53F597-D484-4968-BD37-3428F41B1BF2Q48648613-967D1504-A670-434B-8447-61C1EA3C23C4Q50019659-83E1F49A-6769-4162-B74C-8C0E7E75E153Q54620093-B3842491-29CC-45A3-A47D-318251234CB3Q54685860-A69CEE67-66B0-4156-A8AC-D117ACFDB0F5Q57049704-5D1FA5CC-84B1-44C9-AF95-4D1B85821625Q57389875-7E107BEE-6458-40ED-8AD8-201D4205F488Q57562558-86099F74-CEB1-4396-80EC-29BB62D9C396Q57639981-3EFA4C95-4651-4233-A006-F29C0F313BE7Q57831005-110955AF-750E-4056-835D-A2E855E57875Q58223836-DEC0DC38-9C21-446E-A940-0365EB94B182Q59876279-DC13E602-AFEE-4148-B384-87EDD28CA94DQ59876281-C12915BD-1E09-4EBD-8E8B-97C8ADF54B7FQ91814745-3BC0B480-AD74-418E-A073-D445DC5D8589Q92278506-5D713965-C426-4204-BDB6-644FD65BF0BCQ92380889-587B2524-1A52-4E72-A5D1-9DD25A6DA3DA
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Pietro Spitali
@ast
Pietro Spitali
@en
Pietro Spitali
@es
Pietro Spitali
@nl
Pietro Spitali
@sl
type
label
Pietro Spitali
@ast
Pietro Spitali
@en
Pietro Spitali
@es
Pietro Spitali
@nl
Pietro Spitali
@sl
altLabel
P Spitali
@en
prefLabel
Pietro Spitali
@ast
Pietro Spitali
@en
Pietro Spitali
@es
Pietro Spitali
@nl
Pietro Spitali
@sl
P1053
Y-2948-2018
P106
P21
P31
P496
0000-0003-2783-688X