Publications by authors named "Michele Pinelli"

43Publications

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.

Eur J Paediatr Neurol 2020 Sep 3;28:237-239. Epub 2020 Aug 3.

Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2020.07.008DOI Listing
September 2020

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

Birth Defects Res 2020 Aug 27;112(14):1085-1092. Epub 2020 May 27.

UOC Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/bdr2.1711DOI Listing
August 2020

Sphingolipid Metabolism Perturbations in Rett Syndrome.

Metabolites 2019 Oct 10;9(10). Epub 2019 Oct 10.

Department of Translational Medicine, Federico II University, 80131 Naples, Italy.

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http://dx.doi.org/10.3390/metabo9100221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835521PMC
October 2019

Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.

J Nephrol 2020 Jun 24;33(3):569-581. Epub 2019 Oct 24.

Department of Public Health, Chair of Nephrology, University Federico II of Naples, Via Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s40620-019-00663-6DOI Listing
June 2020

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.

Acta Paediatr 2019 01 17;108(1):171-172. Epub 2018 Oct 17.

Department of Translational Medicine, Federico II University, Naples, Italy.

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http://doi.wiley.com/10.1111/apa.14576
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http://dx.doi.org/10.1111/apa.14576DOI Listing
January 2019

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Ann Neurol 2017 10;82(4):650-651

Department  of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ana.25058DOI Listing
October 2017

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Eur J Med Genet 2017 Dec 1;60(12):655-657. Epub 2017 Sep 1.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173054
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http://dx.doi.org/10.1016/j.ejmg.2017.08.018DOI Listing
December 2017

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Am J Med Genet A 2017 Oct 2;173(10):2743-2746. Epub 2017 Aug 2.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38367DOI Listing
October 2017

Parent-of-origin-specific signatures of de novo mutations.

Nat Genet 2016 08 20;48(8):935-9. Epub 2016 Jun 20.

Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia, USA.

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http://dx.doi.org/10.1038/ng.3597DOI Listing
August 2016

An atlas of gene expression and gene co-regulation in the human retina.

Nucleic Acids Res 2016 07 27;44(12):5773-84. Epub 2016 May 27.

Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy Dept. Of Chemical, Materials and Industrial Production Engineering, University of Naples 'Federico II', Piazzale Tecchio 80, 80125 Naples, Italy

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http://dx.doi.org/10.1093/nar/gkw486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937338PMC
July 2016

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.

Nucleic Acids Res 2016 Feb 26;44(4):1525-40. Epub 2016 Jan 26.

Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, via Luigi De Crecchio 7, 80138 Naples (NA), Italy

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http://dx.doi.org/10.1093/nar/gkw039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770244PMC
February 2016

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

Am J Hum Genet 2015 Jul 6;97(1):67-74. Epub 2015 Jun 6.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute of Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571017PMC
July 2015

The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes.

J Transl Med 2015 Mar 12;13:85. Epub 2015 Mar 12.

Department of Clinical Medicine and Surgery, University of Naples Federico II, Via S Pansini 5, Naples, 80131, Italy.

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http://dx.doi.org/10.1186/s12967-015-0448-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358785PMC
March 2015

Computational modelling of emboli travel trajectories in cerebral arteries: influence of microembolic particle size and density.

Biomech Model Mechanobiol 2014 Apr 2;13(2):289-302. Epub 2014 Mar 2.

Brunel Institute for Bioengineering, Brunel University, Uxbridge, Middlesex , UB8 3PH, UK.

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http://dx.doi.org/10.1007/s10237-014-0561-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968521PMC
April 2014

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?

Antioxid Redox Signal 2013 Apr 13;18(11):1303-6. Epub 2012 Dec 13.

Department of Cellular and Molecular Biology and Pathology, University of Naples "Federico II," Naples, Italy.

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http://dx.doi.org/10.1089/ars.2012.5009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584504PMC
April 2013

Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2.

BMC Bioinformatics 2012 Jun 14;13:132. Epub 2012 Jun 14.

Gruppo Interdipartimentale di Bioinformatica e Biologia Computazionale, Università di Napoli "Federico II" - Università di Salerno, Italy.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1471-2105-13-132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538511PMC
June 2012

Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation.

BMC Evol Biol 2010 Nov 11;10:351. Epub 2010 Nov 11.

Gruppo Interdipartimentale di Bioinformatica e Biologia Computazionale, Università di Napoli "Federico II"-Università di Salerno, Naples, Italy.

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http://dx.doi.org/10.1186/1471-2148-10-351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2996405PMC
November 2010

A novel approach to simulate gene-environment interactions in complex diseases.

BMC Bioinformatics 2010 Jan 5;11. Epub 2010 Jan 5.

Gruppo Interdipartimentale di Bioinformatica e Biologia Computazionale, Università di Napoli "Federico II"-Università di Salerno, Italy.

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http://dx.doi.org/10.1186/1471-2105-11-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824681PMC
January 2010

Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases.

PLoS One 2009 Nov 20;4(11):e7927. Epub 2009 Nov 20.

Gruppo Interdipartimentale di Bioinformatica e Biologia Computazionale, Università di Napoli Federico II-Università di Salerno, Naples, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0007927PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775949PMC
November 2009

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

Cerebellum 2009 Jun 23;8(2):98-103. Epub 2008 Dec 23.

Department of Cellular and Molecular Biology, IEOS CNR, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1007/s12311-008-0087-zDOI Listing
June 2009

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.

Cerebellum 2008 ;7(3):360-5

Medical Genetics Unit, Department of Cellular and Molecular Biology, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1007/s12311-008-0036-xDOI Listing
May 2009