TOMANIN, ROSELLA

TOMANIN, ROSELLA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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 - -
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 - -
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes 2023 Badenetti L.Manzoli R.Trevisan M.Tomanin R.Moro E. + SCIENTIFIC REPORTS - -
A rapid testing procedure for Fabry disease: alpha-galadosidase A assay in dried blood spots 2008 GASPAROTTO, NICOLETTATOMANIN, ROSELLAFRIGO, ANNA CHIARASCARPA, MAURIZIO + ACTA PAEDIATRICA - -
A replication defective retrovirus model for the identification of psoralens with antiretroviral activity. 1993 G. MioloR. TomaninA. De RossiF. Dall'AcquaF. ZacchelloM. Scarpa - - 21st Annual Meeting of the American Society for Photobiology
Antiretroviral activity of furocoumarins plus UVA light detected by a replication-defective retrovirus 1994 MIOLO, GIORGIATOMANIN, ROSELLADE ROSSI, ANITADALL'ACQUA, FRANCESCOZACCHELLO, FRANCOSCARPA, MAURIZIO JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY B-BIOLOGY - -
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 - -
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 - -
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study 2022 Tomanin R. + ORPHANET JOURNAL OF RARE DISEASES - -
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
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 - -
Corrigendum: FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII) [Human Molecular Genetics, 27, 13, (2018) (2262-2275)] DOI: 10.1093/hmg/ddy131 2018 Bellesso S.Salvalaio M.Costa R.Braghetta P.Giraudo C.Stramare R.Rigon L.Tomanin R.Moro E. + HUMAN MOLECULAR GENETICS - -
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 - -
Early axon guidance and synapse maturation defects in a zebrafish model of Mucopolysaccharidosis type II 2022 Rosa ManzoliLorenzo BadenettiRosella TomaninEnrico Moro - - Early axon guidance and synapse maturation defects in a zebrafish model of Mucopolysaccharidosis type II
Evaluation of the antiviral activity of psoralens. G. Miolo, R. Tomanin, A. De Rossi, F. Dall'Acqua, F. Zacchello, M. Scarpa. 1993 G. MioloR. TomaninA. De RossiF. Dall'AcquaF. ZacchelloM. Scarpa - - Society for Drug Research -Società Chimica Italiana Joint Meeting (P4)
Exploiting the potential of drosophila models in lysosomal storage disorders: Pathological mechanisms and drug discovery 2021 Rigon L.Napoli B.Tomanin R.Orso G. + BIOMEDICINES - -
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 - -
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 - -
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro genetransfer for the production and release of recombinant iduronate-2-sulfatase (IDS) 2008 FRISO, ADELAIDETOMANIN, ROSELLAZANETTI, ALESSANDRAMARIN, ORIANOZACCHELLO, FRANCOSCARPA, MAURIZIO + BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - -
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. 2010 FRISO, ADELAIDETOMANIN, ROSELLASALVALAIO, MARIKASCARPA, MAURIZIO BRITISH JOURNAL OF PHARMACOLOGY - -