Andrea Dardis

Andrea Dardis

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Andrea Dardis

Andrea Dardis

Publications by authors named "Andrea Dardis"

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Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Clin Genet 2019 Feb 18;95(2):336-338. Epub 2018 Nov 18.

Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital "Santa Maria della Misericordia" Udine, Udine, Italy.

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http://doi.wiley.com/10.1111/cge.13464
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http://dx.doi.org/10.1111/cge.13464DOI Listing
February 2019

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

J Inherit Metab Dis 2018 03 15;41(2):209-219. Epub 2017 Nov 15.

Neurological Unit, St. Bassiano Hospital, Via dei Lotti, 40, 36061, Bassano del Grappa, Italy.

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http://dx.doi.org/10.1007/s10545-017-0098-3DOI Listing
March 2018

Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.

Genes (Basel) 2018 Feb 6;9(2). Epub 2018 Feb 6.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy, I.C.G.E.B., Padriciano 99, 34149 Trieste, Italy.

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http://dx.doi.org/10.3390/genes9020073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852569PMC
February 2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.

Mov Disord 2017 Oct 26;32(10):1423-1431. Epub 2017 Aug 26.

Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/mds.27136DOI Listing
October 2017

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Mol Ther 2017 09 16;25(9):2117-2128. Epub 2017 Jun 16.

International Centre for Genetic Engineering and Biotechnology, Area Science Park, Padriciano, 34149 Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589062PMC
September 2017

GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

J Mol Diagn 2017 09 18;19(5):733-741. Epub 2017 Jul 18.

Regional Coordinator Centre for Rare Diseases, Academic Hospital Santa Maria della Misericordia, Udine, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.05.005DOI Listing
September 2017

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Orphanet J Rare Dis 2017 08 31;12(1):148. Epub 2017 Aug 31.

Regional Coordinator Centre for Rare Diseases, AMC Hospital of Udine, Building 16; Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.

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http://dx.doi.org/10.1186/s13023-017-0700-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580212PMC
August 2017

A neonate with abdominal distension and failure to thrive.

Arch Dis Child Educ Pract Ed 2017 Jun 26;102(3):166. Epub 2016 Apr 26.

Inherited Metabolic Diseases Unit, Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

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http://dx.doi.org/10.1136/archdischild-2015-310124DOI Listing
June 2017

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.

Hum Mol Genet 2017 06;26(12):2277-2289

Department of Psychology, Section of Neuroscience and Center for Research in Neurobiology 'Daniel Bovet', Sapienza University of Rome, 00185 Rome, Italy.

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http://dx.doi.org/10.1093/hmg/ddx118DOI Listing
June 2017

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Hum Mutat 2016 Feb 1;37(2):139-47. Epub 2015 Dec 1.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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http://dx.doi.org/10.1002/humu.22923DOI Listing
February 2016

Profile of eliglustat tartrate in the management of Gaucher disease.

Ther Clin Risk Manag 2016 11;12:53-8. Epub 2016 Jan 11.

Regional Coordinator Center for Rare Diseases, Academic Hospital of Udine, Udine, Italy.

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http://dx.doi.org/10.2147/TCRM.S73226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4714736PMC
January 2016

Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.

PLoS One 2014 14;9(11):e112503. Epub 2014 Nov 14.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112503PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232374PMC
December 2015

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

FASEB J 2015 Sep 27;29(9):3839-52. Epub 2015 May 27.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

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http://dx.doi.org/10.1096/fj.15-271148DOI Listing
September 2015

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

Mol Genet Metab 2014 Nov 4;113(3):213-8. Epub 2014 Aug 4.

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2014.07.022DOI Listing
November 2014

Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.

Eur J Pediatr 2014 Jun 7;173(6):805-13. Epub 2014 Jan 7.

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Ple. Santa Maria della Misericordia 15, Udine, 33100, Italy.

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http://dx.doi.org/10.1007/s00431-013-2258-2DOI Listing
June 2014

Functional analysis of 11 novel GBA alleles.

Eur J Hum Genet 2014 Apr 11;22(4):511-6. Epub 2013 Sep 11.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953908PMC
April 2014

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

J Neurol 2014 Apr 26;261(4):804-8. Epub 2014 Feb 26.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s00415-014-7282-2DOI Listing
April 2014

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Nucleic Acids Res 2014 Jan 22;42(2):1291-302. Epub 2013 Oct 22.

Regional Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy and International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkt987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902950PMC
January 2014

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Mol Genet Metab 2013 Nov 7;110(3):329-35. Epub 2013 Aug 7.

Division of Metabolism, Department of Pediatric Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.019DOI Listing
November 2013

Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.

JIMD Rep 2013 1;7:117-22. Epub 2012 Jul 1.

Regional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", Piazzale Santa Maria della Misericordia 15, Udine, 33100, Italy,

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http://dx.doi.org/10.1007/8904_2012_158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575042PMC
February 2013

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

JIMD Rep 2012 6;2:59-69. Epub 2011 Sep 6.

Regional Coordinator Centre for Rare Disease, University Hospital "Santa Maria della Misericordia", Piazzale "S. Maria della Misericordia", 15, 33100, Udine, Italy.

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http://dx.doi.org/10.1007/8904_2011_49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509841PMC
February 2013

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.

J Inherit Metab Dis 2012 Nov 23;35(6):1101-6. Epub 2012 Mar 23.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-012-94
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http://link.springer.com/10.1007/s10545-012-9476-z
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http://dx.doi.org/10.1007/s10545-012-9476-zDOI Listing
November 2012

Early miglustat therapy in infantile Niemann-Pick disease type C.

Pediatr Neurol 2012 Jul;47(1):40-3

Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.005DOI Listing
July 2012

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Eur J Hum Genet 2011 Apr 22;19(4):422-31. Epub 2010 Dec 22.

Regional Coordinator Centre for Rare disease, University hospital 'Santa Maria della Misericordia', Udine, Italy.

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http://dx.doi.org/10.1038/ejhg.2010.188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060314PMC
April 2011

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

Mol Genet Metab 2011 Feb 29;102(2):226-8. Epub 2010 Oct 29.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, CIBER de Enfermedades Raras, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.004DOI Listing
February 2011

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

J Inherit Metab Dis 2010 Dec 14;33(6):727-35. Epub 2010 Sep 14.

Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9201
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http://link.springer.com/10.1007/s10545-010-9201-8
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http://dx.doi.org/10.1007/s10545-010-9201-8DOI Listing
December 2010

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

J Cell Mol Med 2009 Sep 4;13(9B):3786-96. Epub 2008 Sep 4.

Unita di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1111/j.1582-4934.2008.00493.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2832077PMC
September 2009

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

Mol Genet Metab 2009 Aug 3;97(4):309-11. Epub 2009 May 3.

Regional Coordination Centre for Rare Diseases, University Hospital S. Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2009.04.011DOI Listing
August 2009

Regulation of cytochrome b5 gene transcription by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells.

Mol Endocrinol 2005 Aug 14;19(8):2020-34. Epub 2005 Apr 14.

Department of Pediatrics, University of California, San Francisco, San Francisco, California 94143-0978, USA.

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http://dx.doi.org/10.1210/me.2004-0411DOI Listing
August 2005

Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase.

Mol Genet Metab 2003 Dec;80(4):469-72

Department of Pediatrics, University of California, San Francisco, CA 94143-0978, USA.

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December 2003

Dexamethasone does not exert direct intracellular feedback on steroidogenesis in human adrenal NCI-H295A cells.

J Endocrinol 2003 Oct;179(1):131-42

Department of Pediatrics and the Metabolic Research Unit, University of California, San Francisco, San Francisco, California 94143-0978, USA.

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October 2003