Andrea Dardis

Andrea Dardis

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Andrea Dardis

Andrea Dardis

Publications by authors named "Andrea Dardis"

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60Publications

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

J Inherit Metab Dis 2018 Mar 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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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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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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December 2017

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

Mol Ther 2017 Sep 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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September 2017

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

J Mol Diagn 2017 Sep 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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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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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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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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June 2017

Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.

JIMD Rep 2017 17;36:19-27. Epub 2017 Jan 17.

Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, University of Brescia, Piazzale Spedali Civili 1, Brescia, Italy.

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January 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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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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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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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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September 2015

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Annu Rev Genomics Hum Genet 2014 ;15:173-94

Department of Pharmacology, University of Oxford, Oxford OX1 3QT, United Kingdom; email:

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May 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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November 2014

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

BMC Cardiovasc Disord 2014 Jul 16;14:86. Epub 2014 Jul 16.

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

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July 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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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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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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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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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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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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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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February 2013

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Orphanet J Rare Dis 2013 Feb 21;8:34. Epub 2013 Feb 21.

Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

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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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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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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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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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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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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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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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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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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