Arianna Tucci

Arianna Tucci

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Arianna Tucci

Arianna Tucci

Publications by authors named "Arianna Tucci"

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Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

J Hum Genet 2018 03 7;63(3):391. Epub 2018 Feb 7.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/s10038-017-0369-8DOI Listing
March 2018

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

J Hum Genet 2017 Nov 27;62(11):1001-1004. Epub 2017 Jul 27.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2017.78DOI Listing
November 2017

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Hum Genet 2017 10 3;136(10):1329-1339. Epub 2017 Aug 3.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-017-1832-5DOI Listing
October 2017

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Eur J Med Genet 2017 Mar 20;60(3):159-162. Epub 2016 Dec 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212163011
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http://dx.doi.org/10.1016/j.ejmg.2016.12.006DOI Listing
March 2017

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Am J Med Genet A 2017 Mar 25;173(3):638-646. Epub 2016 Dec 25.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38054DOI Listing
March 2017

7p22.1 microduplication syndrome: Refinement of the critical region.

Eur J Med Genet 2017 Feb 16;60(2):114-117. Epub 2016 Nov 16.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212163015
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http://dx.doi.org/10.1016/j.ejmg.2016.11.005DOI Listing
February 2017

is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.

Mol Cytogenet 2016 3;9:80. Epub 2016 Nov 3.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s13039-016-0289-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093957PMC
November 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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http://dx.doi.org/10.1093/brain/aww111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939695PMC
July 2016

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Eur J Hum Genet 2016 06 16;24(6):857-63. Epub 2015 Sep 16.

Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4688955PMC
June 2016

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Am J Med Genet A 2016 May 11;170A(5):1257-61. Epub 2016 Jan 11.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37553DOI Listing
May 2016

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

BMC Med Genet 2016 Mar 11;17:22. Epub 2016 Mar 11.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy.

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http://dx.doi.org/10.1186/s12881-016-0287-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788854PMC
March 2016

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

J Neurol Sci 2015 Aug 29;355(1-2):199-201. Epub 2015 May 29.

Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.

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http://dx.doi.org/10.1016/j.jns.2015.05.031DOI Listing
August 2015

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Neurobiol Aging 2015 Feb 27;36(2):1221.e1-6. Epub 2014 Aug 27.

Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321829PMC
February 2015

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2015 Feb;84(6):632

London.

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http://dx.doi.org/10.1212/WNL.0000000000001248DOI Listing
February 2015

Author response.

Neurology 2015 Feb;84(6):632

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February 2015

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2014 Jun 14;82(23):2072-6. Epub 2014 May 14.

From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118497PMC
June 2014

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

J Neurol Neurosurg Psychiatry 2014 May 6;85(5):486-92. Epub 2013 Nov 6.

Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, , London, UK.

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http://dx.doi.org/10.1136/jnnp-2013-306387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995331PMC
May 2014

Inhibition of NF-κB nuclear translocation via HO-1 activation underlies α-tocopheryl succinate toxicity.

J Nutr Biochem 2012 Dec 23;23(12):1583-91. Epub 2012 Mar 23.

Dipartimento di Medicina Sperimentale Scienze Biochimiche, Sezione Biochimica Cellulare, Università degli Studi di Perugia, via del Giochetto, Perugia, Italia.

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http://dx.doi.org/10.1016/j.jnutbio.2011.10.012DOI Listing
December 2012

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1.

Neurosci Lett 2012 Jun 23;518(1):19-22. Epub 2012 Apr 23.

Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1016/j.neulet.2012.04.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769807PMC
June 2012

Genetic variability at the PARK16 locus.

Eur J Hum Genet 2010 Dec 4;18(12):1356-9. Epub 2010 Aug 4.

Department of Molecular Neuroscience and Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ejhg.2010.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002857PMC
December 2010

Differential involvement of reactive oxygen species and nucleoside transporters in cytotoxicity induced by two adenosine analogues in human prostate cancer cells.

Prostate 2009 Apr;69(5):538-47

Dipartimento di Medicina Sperimentale Scienze Biochimiche, Sezione Biochimica Cellulare, Perugia, Italy.

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http://dx.doi.org/10.1002/pros.20900DOI Listing
April 2009

2-chloroadenosine modulates PAR-1 and IL-23 expression and enhances docetaxel effects on PC3 cells.

Prostate 2008 Mar;68(4):360-72

Dipartimento di Medicina Sperimentale Scienze Biochimiche, Sezione Biochimica Cellulare, via del Giochetto, Perugia, Italy.

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http://dx.doi.org/10.1002/pros.20703DOI Listing
March 2008