Lista de obras - Pietro Spitali - Dominio Público Uruguay

226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands

artículo científico publicado en 2017

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

artículo científico publicado en 2018

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

artículo científico publicado en 2008

Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.

artículo científico publicado en 2010

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

artículo científico publicado en 2014

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

artículo científico publicado en 2016

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice

artículo científico publicado en 2013

Biomarkers of Duchenne muscular dystrophy: current findings

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

artículo científico publicado en 2009

Circulating Biomarkers for Duchenne Muscular Dystrophy.

artículo científico publicado en 2015

Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

artículo científico publicado en 2015

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy

artículo científico publicado en 2018

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

artículo científico publicado en 2017

DMD transcript imbalance determines dystrophin levels

artículo científico publicado en 2013

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

scholarly article by Marcella Neri et al published December 2007 in Neuromuscular Disorders

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

artículo científico publicado en 2017

Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice

artículo científico publicado en 2018

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

artículo científico publicado en 2005

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

artículo científico publicado en 2006

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

artículo científico publicado en 2019

Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients

artículo científico publicado en 2021

Plasma lipidomic analysis shows a disease progression signature in mdx mice

artículo científico publicado en 2021

Premature termination codons in the DMD gene cause reduced local mRNA synthesis

artículo científico publicado en 2020

Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy

artículo científico publicado en 2014

Response to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

article

Simultaneous Enrichment Analysis of all Possible Gene-sets: Unifying Self-Contained and Competitive Methods

scientific article published on 09 July 2019

Splice modulating therapies for human disease

artículo científico

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies

Transcriptional behavior of DMD gene duplications in DMD/BMD males

artículo científico publicado en 2009

Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.

artículo científico publicado en 2006

Lista de obras de Pietro Spitali

226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice

Biomarkers of Duchenne muscular dystrophy: current findings

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

Circulating Biomarkers for Duchenne Muscular Dystrophy.

Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

DMD transcript imbalance determines dystrophin levels

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice

Exon skipping-mediated dystrophin reading frame restoration for small mutations

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients

Plasma lipidomic analysis shows a disease progression signature in mdx mice

Premature termination codons in the DMD gene cause reduced local mRNA synthesis

Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy

Response to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

Simultaneous Enrichment Analysis of all Possible Gene-sets: Unifying Self-Contained and Competitive Methods

Splice modulating therapies for human disease

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

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

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies

Transcriptional behavior of DMD gene duplications in DMD/BMD males

Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.