C. Passarelli

发表

Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice

M. Falzarano, A. Ferlini, N. Maraldi, 2013, BioMed research international.

Validation of genetic modi fi ers for Duchenne muscular dystrophy : a multicentre study assessing SPP 1 and LTBP 4 variants

K. Bushby, F. Muntoni, S. Böhringer, 2014 .

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

E. Bertini, C. Passarelli, A. Pastore, 2011, Neuroscience.

Protein glutathionylation in cellular compartments: A constitutive redox signal

E. Bertini, R. Carrozzo, S. Petrini, 2012, Redox report : communications in free radical research.

Epifluorescence , confocal laser microscopy and colocalization analyses in the study of protein glutathionylation in primary cultured fibroblasts and in their in situ extracted matrix

E. Bertini, S. Petrini, C. Passarelli, 2011 .

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

C. Cancrini, F. Candotti, C. Granata, 2019, Journal of Clinical Immunology.

Sodium Valproate‐induced hyperammonemia without clinical hepatic dysfunction

A. Marini, C. Passarelli, W. Wagle, 1982, Neurology.

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

E. Bertini, B. Dallapiccola, A. Ferlini, 2013, neurogenetics.

DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

E. Bertini, E. Mercuri, F. Santorelli, 2012, Annals of neurology.

A novel DMD IRES results in a functional N-truncated dystrophin, providing a potential route to therapy for patients with 5’ mutations

M. Uhlén, R. Weiss, D. Dunn, 2014, Nature medicine.

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

M. Uhlén, C. Szigyarto, R. Weiss, 2014, Nature Medicine.

HLA allele frequencies and susceptibility to COVID‐19 in a group of 99 Italian patients

G. Novelli, A. Novelli, S. Bernardini, 2020, HLA.

GSSG-mediated Complex I defect in isolated cardiac mitochondria.

E. Bertini, C. Passarelli, A. Pastore, 2010, International journal of molecular medicine.

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

E. Bertini, P. Ciampalini, C. Passarelli, 2012, Pediatric diabetes.

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

E. Bertini, S. Petrini, V. Bonetto, 2008, Journal of Muscle Research and Cell Motility.

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

E. Bertini, S. Petrini, C. Poggesi, 2009, Cytoskeleton.

Glutathionylation of p 65 NF-κ B correlates with proliferating / apoptotic hepatoma cells exposed to pro-and antioxidants

S. Petrini, A. Alisi, G. Bottazzo, 2022 .

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

A. Ferlini, E. Pegoraro, P. Bonaldo, 2012, Human gene therapy.

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

F. De Benedetti, C. Passarelli, C. Bracaglia, 2019, The Journal of Rheumatology.

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

M. Falzarano, A. Ferlini, C. Passarelli, 2015, Molecules.

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation

A. Novelli, P. Grammatico, S. Majore, 2021, Journal of Molecular Neuroscience.

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

G. Damonte, M. Severino, A. Martini, 2017, Annals of the rheumatic diseases.

IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

V. Lanari, A. Novelli, M. Rossi, 2020, Frontiers in Genetics.

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

E. Bertini, Hui Jiang, E. Arbustini, 2016, The Journal of clinical investigation.

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

M. Falzarano, H. Osman, A. Ferlini, 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.

Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity

M. Rossi, F. De Benedetti, C. Passarelli, 2022, Frontiers in Immunology.

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

A. Coppè, A. Novelli, L. Sinibaldi, 2022, Diagnostics.

Erratum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice: (Nature Medicine (2014) 20 (992-1000) DOI:10.1038/nm.3628)

M. Uhlén, C. Szigyarto, R. Weiss, 2015 .

Biomarkers in rare neuromuscular diseases.

Alessandra Ferlini, Marcella Neri, A. Ferlini, 2014, Experimental cell research.

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

M. Falzarano, A. Ferlini, C. Passarelli, 2014, Nucleic acid therapeutics.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Phillip A. Richmond, A. Hoischen, J. Casanova, 2022, medRxiv.

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

Francesco Muntoni, Alessandra Ferlini, Stefan Böhringer, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

C. Scapoli, E. Bertini, M. Pane, 2020, Frontiers in Genetics.

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

E. Agolini, A. Novelli, A. P. Capra, 2023, Genes.

Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients

G. Novelli, F. Amati, A. Minutolo, 2020, Heliyon.

Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes

A. Coppè, A. Novelli, L. Sinibaldi, 2021, International journal of molecular sciences.

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities

E. Bertini, C. Duyckaerts, F. Scaravilli, 2009, Journal of the Neurological Sciences.

Congenital heart defects in molecularly proven Kabuki syndrome patients

M. Digilio, B. Dallapiccola, R. Capolino, 2017, American journal of medical genetics. Part A.

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

G. Pesole, E. Bertini, K. Bushby, 2016, Journal of Cell Science.

Early Treatment and IL1RN Single‐Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic Arthritis

M. Rossi, F. De Benedetti, C. Passarelli, 2020, Arthritis & rheumatology.

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

A. Coppè, L. Sinibaldi, B. Falsini, 2022, Frontiers in Genetics.

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.

P. Palma, A. Novelli, M. Chiriacò, 2023, Clinical immunology.

Biodistribution studies of polymeric nanoparticles for drug delivery in mice.

M. Falzarano, A. Ferlini, P. Braghetta, 2014, Human gene therapy.

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

C. Cancrini, F. Candotti, C. Granata, 2019, Journal of Clinical Immunology.

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

E. Bertini, B. Dallapiccola, A. Ferlini, 2013, neurogenetics.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Phillip A. Richmond, A. Hoischen, W. Wasserman, 2023, The Journal of experimental medicine.