TOLVE, MANUELA
TOLVE, MANUELA
DIPARTIMENTO DI MEDICINA SPERIMENTALE
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
2013 Celato, Andrea; Mitola, Chiara; Tolve, Manuela; Giannini, Maria Teresa; De Leo, Sabrina; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT
2011 A., Celato; C., Mitola; V., Vitale; Tolve, Manuela; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
2019 Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes
2024 Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Ricciardi, Giacomina; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi‐fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)
2017 Di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
Caratterizzazione fenotipica ed outcome della forma recessiva di DYT/PARKGCH1
2024 Ricciardi, Giacomina; Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi-Fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance
2021 Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M.; Leuzzi, Vincenzo
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]
2018 di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
2020 Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B.
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study
2024 Mastrangelo, Mario; Greco, Carlo; Tolve, Manuela; Bartolini, Emanuele; Russo, Angelo; Nicita, Francesco; Pruna, Dario; Galli, Jessica; Favaro, Jacopo; Terrone, Gaetano; De Felice, Claudio; Pisani, Francesco
Genetic paradoxes in an italian family with PARK2 multiexon duplication
2017 Petrucci, Simona; Ferrazzano, Gina; Ginevrino, Monia; Tolve, Manuela; Berardelli, Isabella; Berardelli, Alfredo; Fabbrini, Giovanni; Valente, ENZA MARIA
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase
2016 Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
2020 Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
2022 Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test
2018 Tolve, Manuela; Artiola, Cristiana; Pasquali, Amelia; Giovanniello, Teresa; D'Amici, Sirio; Angeloni, Antonio; Pizzuti, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
2020 Carducci, Carla; Amayreh, Wajdi; Ababneh, Haneen; Mahasneh, Amjad; Al Rababah, Buthaina; Al Qaqa, Kefah; Al Aqeel, Momen; Artiola, Cristiana; Tolve, Manuela; D'Amici, Sirio; Shen, Nan; Yu, Yongguo; Hillert, Alicia; Himmelreich, Nastassja; Okun, Jürgen G.; Hoffmann, Georg F.; Blau, Nenad
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
2020 Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; di Carlo, E.; Carducci, C.; Leuzzi, V.
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS)
2016 Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
2023 Mastrangelo, Mario; Tolve, Manuela; Artiola, Cristiana; Bove, Rossella; Carducci, Claudia; Carducci, Carla; Angeloni, Antonio; Pisani, Francesco; Leuzzi, Vincenzo
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder
2019 Caputi, C; Tolve, M; Galosi, S; Inghilleri, M; Carducci, C; Angeloni, A; Leuzzi, V
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment | 2013 | Celato, Andrea; Mitola, Chiara; Tolve, Manuela; Giannini, Maria Teresa; De Leo, Sabrina; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo | |
| A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT | 2011 | A., Celato; C., Mitola; V., Vitale; Tolve, Manuela; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo | |
| A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies | 2019 | Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla | |
| Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes | 2024 | Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Ricciardi, Giacomina; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi‐fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo | |
| Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) | 2017 | Di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo | |
| Caratterizzazione fenotipica ed outcome della forma recessiva di DYT/PARKGCH1 | 2024 | Ricciardi, Giacomina; Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi-Fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo | |
| Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance | 2021 | Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M.; Leuzzi, Vincenzo | |
| Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142] | 2018 | di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo | |
| Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene | 2020 | Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B. | |
| Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study | 2024 | Mastrangelo, Mario; Greco, Carlo; Tolve, Manuela; Bartolini, Emanuele; Russo, Angelo; Nicita, Francesco; Pruna, Dario; Galli, Jessica; Favaro, Jacopo; Terrone, Gaetano; De Felice, Claudio; Pisani, Francesco | |
| Genetic paradoxes in an italian family with PARK2 multiexon duplication | 2017 | Petrucci, Simona; Ferrazzano, Gina; Ginevrino, Monia; Tolve, Manuela; Berardelli, Isabella; Berardelli, Alfredo; Fabbrini, Giovanni; Valente, ENZA MARIA | |
| Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase | 2016 | Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla | |
| KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes | 2020 | Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo | |
| Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency | 2022 | Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo | |
| Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test | 2018 | Tolve, Manuela; Artiola, Cristiana; Pasquali, Amelia; Giovanniello, Teresa; D'Amici, Sirio; Angeloni, Antonio; Pizzuti, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla | |
| Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan | 2020 | Carducci, Carla; Amayreh, Wajdi; Ababneh, Haneen; Mahasneh, Amjad; Al Rababah, Buthaina; Al Qaqa, Kefah; Al Aqeel, Momen; Artiola, Cristiana; Tolve, Manuela; D'Amici, Sirio; Shen, Nan; Yu, Yongguo; Hillert, Alicia; Himmelreich, Nastassja; Okun, Jürgen G.; Hoffmann, Georg F.; Blau, Nenad | |
| Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male | 2020 | Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; di Carlo, E.; Carducci, C.; Leuzzi, V. | |
| Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) | 2016 | Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo | |
| Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism | 2023 | Mastrangelo, Mario; Tolve, Manuela; Artiola, Cristiana; Bove, Rossella; Carducci, Claudia; Carducci, Carla; Angeloni, Antonio; Pisani, Francesco; Leuzzi, Vincenzo | |
| Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder | 2019 | Caputi, C; Tolve, M; Galosi, S; Inghilleri, M; Carducci, C; Angeloni, A; Leuzzi, V |