Andrea Dardis

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Publications in SciGraph latest 50 shown

  • 2019-03 microRNAs as biomarkers in Pompe disease in GENETICS IN MEDICINE
  • 2018-12 Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn rat in SCIENTIFIC REPORTS
  • 2018-03 Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-12 Chronic pain in Gaucher disease: skeletal or neuropathic origin? in ORPHANET JOURNAL OF RARE DISEASES
  • 2017 Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C in JIMD REPORTS, VOLUME 36
  • 2016-12 Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2015-12 Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-03 Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins in JOURNAL OF NEUROLOGY
  • 2015 Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype in JIMD REPORTS, VOLUME 23
  • 2014-12 Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-12 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 in BMC CARDIOVASCULAR DISORDERS
  • 2014-12 Genotype-phenotype correlation in Pompe disease, a step forward in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-06 Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study in EUROPEAN JOURNAL OF PEDIATRICS
  • 2014-04 Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer’s disease? in JOURNAL OF NEUROLOGY
  • 2014-04 Functional analysis of 11 novel GBA alleles in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-12 A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-12 Endosperm-specific expression of human acid beta-glucosidase in a waxy rice in RICE
  • 2012-11 Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012 Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients in JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/4
  • 2011-09-06 Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking in JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/2
  • 2011-04 Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-04 The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease in GENETICS IN MEDICINE
  • 2009-07 Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations in NEUROGENETICS
  • 2009-02 Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles in NEUROGENETICS
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