List of works - 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

scientific article

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

scientific article published in PLoS ONE

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

scientific article

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

scientific article published on 10 May 2010

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

scientific article

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

scientific article published on 12 October 2016

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice

scientific article

Biomarkers of Duchenne muscular dystrophy: current findings

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

scientific article

Circulating Biomarkers for Duchenne Muscular Dystrophy.

scientific article published on July 2015

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

scientific article published on 17 December 2015

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

scientific article published on 14 February 2018

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

scientific article published in January 2017

DMD transcript imbalance determines dystrophin levels

scientific article published on 23 August 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.

scientific article published on 20 December 2017

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

scientific article published on 01 January 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.

scientific article published in February 2005

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

scientific article published on 24 January 2006

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

scientific article published on 27 December 2019

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

scientific article published on 10 March 2021

Plasma lipidomic analysis shows a disease progression signature in mdx mice

scientific article published on 21 June 2021

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

scientific article published on 02 July 2020

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

scientific article published on 24 July 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 ⬇️

scientific article published on March 16, 2012

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

scientific article published on 02 January 2020

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

scientific article

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

Transcriptional behavior of DMD gene duplications in DMD/BMD males

scientific article published on February 2009

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

scientific article

List of works by 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.