List of works - Chiara Passarelli

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

scientific article published on 18 May 2017

All glutathione forms are depleted in blood of obese and type 1 diabetic children

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

scientific article published on 6 November 2012

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

scientific article

Biodistribution studies of polymeric nanoparticles for drug delivery in mice.

scientific article published on 22 September 2014

Biomarkers in rare neuromuscular diseases.

scientific article published on 31 December 2013

Congenital heart defects in molecularly proven Kabuki syndrome patients.

scientific article published on 8 September 2017

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

article

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

scientific article published on October 2012

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

scientific article published on 4 March 2016

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

scientific article

Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration

scientific article published on 6 June 2011

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

scientific article published on 29 May 2019

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

article

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

scientific article published on 24 August 2013

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

scientific article published on 12 September 2009

Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants

scientific article

Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

scientific article published on 19 June 2017

Myosin as a potential redox-sensor: an in vitro study.

scientific article

Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy

scientific article

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

scientific article

Protein glutathionylation in cellular compartments: A constitutive redox signal

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

scientific article

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

scientific article published on 31 August 2017

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

scientific article

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

scientific article

Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency

scientific article published on 15 January 2019

List of works by Chiara Passarelli

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

All glutathione forms are depleted in blood of obese and type 1 diabetic children

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

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

Biodistribution studies of polymeric nanoparticles for drug delivery in mice.

Biomarkers in rare neuromuscular diseases.

Congenital heart defects in molecularly proven Kabuki syndrome patients.

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

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

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

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

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

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants

Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

Myosin as a potential redox-sensor: an in vitro study.

Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Protein glutathionylation in cellular compartments: A constitutive redox signal

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

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

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency