Sfoglia per Autore

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Titolo Data di pubblicazione Autore(i) Rivista Serie Titolo libro
Drosophila d-idua reduction mimics mucopolysaccharidosis type i disease-related phenotypes 2022 De Filippis C.Napoli B.Rigon L.Guarato G.Tomanin R.Orso G. + CELLS - -
Exploiting the potential of drosophila models in lysosomal storage disorders: Pathological mechanisms and drug discovery 2021 Napoli B.Tomanin R.Orso G. + BIOMEDICINES - -
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders 2020 Zanetti A.D'Avanzo F.Bertoldi L.Zampieri G.Feltrin E.De Pascale F.Rampazzo A.Forzan M.Valle G.Tomanin R. THE JOURNAL OF MOLECULAR DIAGNOSTICS - -
Mucopolysaccharidosis type II: One hundred years of research, diagnosis, and treatment 2020 Dʹavanzo F.Rigon L.Zanetti A.Tomanin R. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Targeting brain disease in MPSII: Preclinical evaluation of IDS-loaded PLGA nanoparticles 2019 Legnini E.D'Avanzo F.Marin O.Tomanin R. + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study 2019 Zanetti A.D'Avanzo F.Rigon L.Rampazzo A.Scarpa M.Tomanin R. + EUROPEAN JOURNAL OF PEDIATRICS - -
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII). 2018 Bellesso StefaniaSalvalaio MarikaCosta RobertoBraghetta PaolaGiraudo ChiaraStramare RobertoRigon LauraTomanin RosellaMoro Enrico + HUMAN MOLECULAR GENETICS ONLINE - -
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model 2017 Salvalaio, MarikaD’Avanzo, FrancescaRIGON, LAURAZanetti, AlessandraD’Angelo, MichelaValle, GiorgioScarpa, MaurizioTomanin, Rosella INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization 2017 BERTOLDI, LORISFORCATO, CLAUDIOVITULO, NICOLABIROLO, GIOVANNIDE PASCALE, FABIOFELTRIN, ERIKASCHIAVON, RICCARDOANGLANI, FRANCANEGRISOLO, SUSANNAZANETTI, ALESSANDRAD'AVANZO, FRANCESCATOMANIN, ROSELLAVEZZI, ALESSANDROVALLE, GIORGIO + BMC BIOINFORMATICS - -
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II 2017 COSTA, ROBERTOURBANI, ANDREASALVALAIO, MARIKABELLESSO, STEFANIACIERI, DOMENICOZANCAN, ILARIABONALDO, PAOLOSZABO', ILDIKO'TOMANIN, ROSELLAMORO, ENRICO + HUMAN MOLECULAR GENETICS - -
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders 2016 RIGON, LAURAD'AVANZO, FRANCESCAMARIN, ORIANOSCARPA, MAURIZIOTOMANIN, ROSELLA + PLOS ONE - -
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 2014 ZANETTI, ALESSANDRATOMANIN, ROSELLARAMPAZZO, ANGELICARIGON, CHIARAGASPAROTTO, NICOLETTACASSINA, MATTEOCLEMENTI, MAURIZIOSCARPA, MAURIZIO JIMD REPORTS - -
BBB Crossing in Lysosomal Storage Disorders: A Nanoparticle-Based Approach 2014 RIGON, LAURASALVALAIO, MARIKAD'AVANZO, FRANCESCASCARPA, MAURIZIOTOMANIN, ROSELLA + JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING - -
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years 2014 TOMANIN, ROSELLAZANETTI, ALESSANDRAD'AVANZO, FRANCESCARAMPAZZO, ANGELICAGASPAROTTO, NICOLETTABORGO, ANDREAFRIGO, ANNA CHIARASCARPA, MAURIZIO + ORPHANET JOURNAL OF RARE DISEASES - -
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders. 2014 GUCCIARDI, ANTONINALEGNINI, ELISATOMANIN, ROSELLASCARPA, MAURIZIOGIORDANO, GIUSEPPE + BIOMEDICAL CHROMATOGRAPHY - -
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment 2013 TOMANIN, ROSELLAD'AVANZO, FRANCESCASALVALAIO, MARIKARIGON, LAURAZANETTI, ALESSANDRASCARPA, MAURIZIO + BMC MEDICAL GENOMICS - BMC Medical Genomics
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved 2013 D'AVANZO, FRANCESCATOMANIN, ROSELLAScarpa, M + CELL DEATH & DISEASE - -
Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases. 2012 TOMANIN, ROSELLAZANETTI, ALESSANDRAD'AVANZO, FRANCESCASCARPA, MAURIZIO + ACTA PAEDIATRICA - -
RNA-seq Transcriptome Profiling Of Primary Hunter Cells Following Treatment With Recombinant IDS As A First Step For Identification Of ERT Efficacy Markers 2011 SCARPA, MAURIZIOZANETTI, ALESSANDRAD'AVANZO, FRANCESCASALVALAIO, MARIKARIGON, LAURACAMPANARO, STEFANOVALLE, GIORGIOTOMANIN, ROSELLA + MOLECULAR GENETICS AND METABOLISM - Molecular Genetics and Metabolism
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. 2010 FRISO, ADELAIDETOMANIN, ROSELLASALVALAIO, MARIKASCARPA, MAURIZIO BRITISH JOURNAL OF PHARMACOLOGY - -
Mostrati risultati da 1 a 20 di 30
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