Chiara Passarelli

Chiara Passarelli

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Chiara Passarelli

Chiara Passarelli

Publications by authors named "Chiara Passarelli"

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27Publications

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

J Rheumatol 2019 05 15;46(5):523-526. Epub 2019 Jan 15.

From the Division of Rheumatology, and the Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Institute for Research and Health Care (IRCCS), Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://www.jrheum.org/lookup/doi/10.3899/jrheum.180045
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http://dx.doi.org/10.3899/jrheum.180045DOI Listing
May 2019

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

Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):113-115. Epub 2017 Jun 19.

Division of Rheumatology, Department of Paediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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February 2018

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

Biochim Biophys Acta Gene Regul Mech 2017 Nov 1;1860(11):1138-1147. Epub 2017 Sep 1.

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy; CIRI Health Sciences & Technologies (HST), Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2017.08.010DOI Listing
November 2017

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Am J Med Genet A 2017 Nov 8;173(11):2912-2922. Epub 2017 Sep 8.

Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38417DOI Listing
November 2017

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Molecules 2015 Oct 7;20(10):18168-84. Epub 2015 Oct 7.

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, 44121 Italy.

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http://dx.doi.org/10.3390/molecules201018168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332113PMC
October 2015

Biodistribution studies of polymeric nanoparticles for drug delivery in mice.

Hum Gene Ther 2014 Nov 22;25(11):927-8. Epub 2014 Sep 22.

1 Department of Medical Sciences, University of Ferrara , 44121 Ferrara, Italy .

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http://dx.doi.org/10.1089/hum.2014.073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236061PMC
November 2014

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

Nat Med 2014 09 10;20(9):992-1000. Epub 2014 Aug 10.

1] The Center for Gene Therapy, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA. [2] Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA. [3] Department of Neurology, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1038/nm.3628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165597PMC
September 2014

Biomarkers in rare neuromuscular diseases.

Exp Cell Res 2014 Jul 31;325(1):44-9. Epub 2013 Dec 31.

Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2013.12.020DOI Listing
July 2014

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

Nucleic Acid Ther 2014 Feb;24(1):87-100

1 Section of Microbiology and Medical Genetics, Department of Medical Sciences, University of Ferrara , Ferrara, Italy .

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http://dx.doi.org/10.1089/nat.2013.0450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922138PMC
February 2014

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

Neurogenetics 2013 Nov 24;14(3-4):247-50. Epub 2013 Aug 24.

Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-013-0371-zDOI Listing
November 2013

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

Pediatr Diabetes 2012 May 13;13(3):272-7. Epub 2011 Sep 13.

Laboratory of Biochemistry, Children's Hospital and Research Institute "Bambino Gesù", Rome, Italy.

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http://dx.doi.org/10.1111/j.1399-5448.2011.00806.xDOI Listing
May 2012

GSSG-mediated Complex I defect in isolated cardiac mitochondria.

Int J Mol Med 2010 Jul;26(1):95-9

Molecular Medicine Unit, Children's Hospital and Research Institute Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.3892/ijmm_00000439DOI Listing
July 2010

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

J Neurol Sci 2009 Dec 12;287(1-2):111-8. Epub 2009 Sep 12.

Division of Neurology, Department of Neurosciences, Azienda Ospedaliera G Rummo, 82100 Benevento, Italy.

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http://dx.doi.org/10.1016/j.jns.2009.08.052DOI Listing
December 2009

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

J Muscle Res Cell Motil 2008 9;29(2-5):119-26. Epub 2008 Sep 9.

Molecular Medicine Unit, Children's Hospital and Research Institute Bambino Gesù, Department of Biology, University of Rome Roma Tre, P.za S. Onofrio, 4, Rome, 00165, Italy.

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http://dx.doi.org/10.1007/s10974-008-9145-xDOI Listing
March 2009