D'AVANZO, FRANCESCA

D'AVANZO, FRANCESCA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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
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 - -
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 - -
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
Analysis of Hunter Syndrome by RNA-Sequencing 2013 D'Avanzo, Francesca - - -
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 - -
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Inherited metabolic diseases 2015 D'AVANZO, FRANCESCASCARPA, MAURIZIO + ORPHANET JOURNAL OF RARE DISEASES - -
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 - -
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease 2016 D'AVANZO, FRANCESCAManara, RenzoSCARPA, MAURIZIO + CELL DEATH & DISEASE - -
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 - -
The ethical framework for performing research with rare inherited neurometabolic disease patients 2017 D'AVANZO, FRANCESCASCARPA, MAURIZIO + EUROPEAN JOURNAL OF PEDIATRICS - -
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model 2017 Salvalaio, MarikaD’Avanzo, FrancescaRIGON, LAURAZanetti, AlessandraD’Angelo, MichelaValle, GiorgioScarpa, MaurizioTomanin, RosellaRIGON, LAURA INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Targeting brain disease in MPSII: Preclinical evaluation of IDS-loaded PLGA nanoparticles 2019 Rigon, LauraSalvalaio, MarikaLegnini, ElisaD'Avanzo, FrancescaDe Filippis, ConcettaMarin, OrianoScarpa, MaurizioTomanin, Rosella + 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 - -
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 - -
Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy 2022 Rigon L.Salvalaio M.D'Avanzo F.Zanetti A.Tomanin R. + JOURNAL OF MOLECULAR MEDICINE - -