Sfoglia per Autore
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
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.
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
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.
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
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.
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.
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.
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
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
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.
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.
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
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.
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
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
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. | |
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 | |
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. | |
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 | |
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. | |
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. | |
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. | |
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 | |
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 | |
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. | |
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. | |
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 | |
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. | |
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 |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile