about
Duchenne Muscular Dystrophy: From Diagnosis to TherapyNanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophyPOPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingMyosin as a potential redox-sensor: an in vitro study.Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions.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.Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyBiomarkers in rare neuromuscular diseases.Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration.Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants.ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.Biodistribution studies of polymeric nanoparticles for drug delivery in mice.DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice.Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathyFriedreich's ataxia: oxidative stress and cytoskeletal abnormalities.Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.Congenital heart defects in molecularly proven Kabuki syndrome patients.Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceCorrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceAll glutathione forms are depleted in blood of obese and type 1 diabetic childrenProtein glutathionylation in cellular compartments: A constitutive redox signalVariable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 DeficiencyEfficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Chiara Passarelli
@ast
Chiara Passarelli
@en
Chiara Passarelli
@es
Chiara Passarelli
@nl
Chiara Passarelli
@sl
type
label
Chiara Passarelli
@ast
Chiara Passarelli
@en
Chiara Passarelli
@es
Chiara Passarelli
@nl
Chiara Passarelli
@sl
prefLabel
Chiara Passarelli
@ast
Chiara Passarelli
@en
Chiara Passarelli
@es
Chiara Passarelli
@nl
Chiara Passarelli
@sl
P106
P1153
24766939400
P21
P31
P496
0000-0001-7919-4626