TONIN, RODOLFO
TONIN, RODOLFO
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for in Vivo Monitoring on Soft Tissues
2022 Chiesa I.; De Maria C.; Ceccarini M.R.; Mussolin L.; Coletta R.; Morabito A.; Tonin R.; Calamai M.; Morrone A.; Beccari T.; Valentini L.
A new hybrid approach for MHC genotyping: high-throughput NGS and long read MinION nanopore sequencing, with application to the non-model vertebrate Alpine chamois (Rupicapra rupicapra)
2018 Fuselli S.; Baptista R.P.; Panziera A.; Magi A.; Guglielmi S.; Tonin R.; Benazzo A.; Bauzer L.G.; Mazzoni C.J.; Bertorelle G.
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient
2014 Tonin R; Caciotti A; Vasarri M; Reni S; De Nardi A; Guerrini R; Filocamo M; Morrone A
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
2015 Tonin R; Caciotti A; Funghini S; la Marca G; Pasquini E; Cayton E; Mooney SD; Guerrini R; Morrone A.
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome
2014 Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A.
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C
2022 Capitini, Claudia; Feo, Federica; Caciotti, Anna; Tonin, Rodolfo; Lulli, Matteo; Coviello, Domenico; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia
Galactosialidosis: review and analysis of CTSA gene mutations
2013 Anna Caciotti;Serena Catarzi;Rodolfo Tonin;Licia Lugli;Carmen Perez;Helen Michelakakis;Irene Mavridou;Maria Donati;Renzo Guerrini;Alessandra d’Azzo;Amelia Morrone
High frequency of biotinidase deficiency in Italian population identified by newborn screening
2020 Funghini S.; Tonin R.; Malvagia S.; Caciotti A.; Donati M.A.; Morrone A.; la Marca G.
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
2024 Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
2015 Musumeci, O; la Marca, G; Spada, M; Mondello, S.; Danesino, C; Comi, Gp; Pegoraro, E; Antonini, G; Marrosu, G; Liguori, R; Morandi, L; Moggio, M; Massa, R; Ravaglia, S; Di Muzio, A; Filosto, M; Tonin, P; Di Iorio, G; Servidei, S; Siciliano, G; Angelini, C; Mongini, T; Toscano, A
MCAD DEFICIENCY: INSIGHTS ON NOVEL MUTATIONS IN THE ACADM GENE
2013 Catarzi S; Tonin R ; Caciotti A; Thusberg J; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney and Morrone A
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
2013 Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A.
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
2018 Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N.; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
2021 Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; Chien Y.-H.; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R.
Morquio B disease: From pathophysiology towards diagnosis
2021 Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations
2015 Caciotti A; Tonin R; Rigoldi M; Ferri L; Catarzi S; Cavicchi C; Procopio E; Donati MA; Ficcadenti A; Fiumara A; Barone R; Garavelli L; Rocco MD; Filocamo M; Antuzzi D; Scarpa M; Mooney SD; Li B; Skouma A; Bianca S; Concolino D; Casalone R; Monti E; Pantaleo M; Giglio S; Guerrini R; Parini R; Morrone A.
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
2019 Tonin R.; Caciotti A.; Procopio E.; Fischetto R.; Deodato F.; Mancardi M.M.; Di Rocco M.; Ardissone A.; Salviati A.; Marangi A.; Strisciuglio P.; Mangone G.; Casini A.; Ricci S.; Fiumara A.; Parini R.; Pavone F.S.; Guerrini R.; Calamai M.; Morrone A.
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
2019 Rodolfo Tonin; Serena Catarzi; Anna Caciotti · Elena Procopio· Carla Marini; · Renzo Guerrini; · Amelia Morrone
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
2020 Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for in Vivo Monitoring on Soft Tissues | 2022 | Chiesa I.; De Maria C.; Ceccarini M.R.; Mussolin L.; Coletta R.; Morabito A.; Tonin R.; Calamai M.; Morrone A.; Beccari T.; Valentini L. | |
| A new hybrid approach for MHC genotyping: high-throughput NGS and long read MinION nanopore sequencing, with application to the non-model vertebrate Alpine chamois (Rupicapra rupicapra) | 2018 | Fuselli S.; Baptista R.P.; Panziera A.; Magi A.; Guglielmi S.; Tonin R.; Benazzo A.; Bauzer L.G.; Mazzoni C.J.; Bertorelle G. | |
| Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient | 2014 | Tonin R; Caciotti A; Vasarri M; Reni S; De Nardi A; Guerrini R; Filocamo M; Morrone A | |
| Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. | 2015 | Tonin R; Caciotti A; Funghini S; la Marca G; Pasquini E; Cayton E; Mooney SD; Guerrini R; Morrone A. | |
| Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome | 2014 | Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A. | |
| Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C | 2022 | Capitini, Claudia; Feo, Federica; Caciotti, Anna; Tonin, Rodolfo; Lulli, Matteo; Coviello, Domenico; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia | |
| Galactosialidosis: review and analysis of CTSA gene mutations | 2013 | Anna Caciotti;Serena Catarzi;Rodolfo Tonin;Licia Lugli;Carmen Perez;Helen Michelakakis;Irene Mavridou;Maria Donati;Renzo Guerrini;Alessandra d’Azzo;Amelia Morrone | |
| High frequency of biotinidase deficiency in Italian population identified by newborn screening | 2020 | Funghini S.; Tonin R.; Malvagia S.; Caciotti A.; Donati M.A.; Morrone A.; la Marca G. | |
| Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction | 2024 | Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai | |
| LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. | 2015 | Musumeci, O; la Marca, G; Spada, M; Mondello, S.; Danesino, C; Comi, Gp; Pegoraro, E; Antonini, G; Marrosu, G; Liguori, R; Morandi, L; Moggio, M; Massa, R; Ravaglia, S; Di Muzio, A; Filosto, M; Tonin, P; Di Iorio, G; Servidei, S; Siciliano, G; Angelini, C; Mongini, T; Toscano, A | |
| MCAD DEFICIENCY: INSIGHTS ON NOVEL MUTATIONS IN THE ACADM GENE | 2013 | Catarzi S; Tonin R ; Caciotti A; Thusberg J; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney and Morrone A | |
| Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. | 2013 | Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A. | |
| Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease | 2018 | Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N.; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia | |
| Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants | 2021 | Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; Chien Y.-H.; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R. | |
| Morquio B disease: From pathophysiology towards diagnosis | 2021 | Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia | |
| Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations | 2015 | Caciotti A; Tonin R; Rigoldi M; Ferri L; Catarzi S; Cavicchi C; Procopio E; Donati MA; Ficcadenti A; Fiumara A; Barone R; Garavelli L; Rocco MD; Filocamo M; Antuzzi D; Scarpa M; Mooney SD; Li B; Skouma A; Bianca S; Concolino D; Casalone R; Monti E; Pantaleo M; Giglio S; Guerrini R; Parini R; Morrone A. | |
| Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content | 2019 | Tonin R.; Caciotti A.; Procopio E.; Fischetto R.; Deodato F.; Mancardi M.M.; Di Rocco M.; Ardissone A.; Salviati A.; Marangi A.; Strisciuglio P.; Mangone G.; Casini A.; Ricci S.; Fiumara A.; Parini R.; Pavone F.S.; Guerrini R.; Calamai M.; Morrone A. | |
| Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. | 2019 | Rodolfo Tonin; Serena Catarzi; Anna Caciotti · Elena Procopio· Carla Marini; · Renzo Guerrini; · Amelia Morrone | |
| Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview | 2020 | Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A. |