TRAVAGLINI, LORENA
TRAVAGLINI, LORENA
STOLOGIA ED EMBRIOLOGIA MEDICA (attivo dal 01/01/1900 al 30/06/2010)
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
2024 Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum
2016 Nicita, Francesco; Travaglini, Lorena; Sabatini, Sandro; Garavaglia, Barbara; Panteghini, Celeste; Valeriani, Massimiliano; Bertini, Enrico; Nardocci, Nardo; Vigevano, Federico; Capuano, Alessandro
Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination
2016 Nicita, Francesco; Bertini, Enrico; Travaglini, Lorena; Armando, Michelina; Aiello, Chiara
Expanding CEP290 mutational spectrum in ciliopathies
2009 Travaglini, Lorena; Francesco, Brancati; Tania Attie, Bitach; Sophie, Audollent; Bertini, Enrico; Josseline, Kaplan; Isabelle, Perrault; Miriam, Iannicelli; Brunella, Mancuso; Luciana, Rigoli; Jean Michel, Rozet; Dominika, Swistun; Jerlyn, Tolentino; The International Jsrd Study, Group; Leuzzi, Vincenzo; Parisi, Pasquale; Bruno, Dallapiccola; Joseph G., Gleeson; Enza Maria, Valente
Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia
2017 Travaglini, Lorena; Bellacchio, Emanuele; Aiello, Chiara; Pro, Stefano; Bertini, Enrico; Nicita, Francesco
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene
2023 Caputi, Caterina; Federici, Giulia; Soddu, Silvia; Travaglini, Lorena; Piane, Maria; Bertini, Enrico; Zanni, Ginevra; Leuzzi, Vincenzo
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
2018 Coarelli, Giulia; Romano, Silvia; Travaglini, Lorena; Ferraldeschi, Michela; Nicita, Francesco; Spadaro, Maria; Fornasiero, Arianna; Frontali, Marina; Salvetti, Marco; Bertini, Enrico; Ristori, Giovanni
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review
2019 Schirinzi, Tommaso; Garone, Giacomo; Travaglini, Lorena; Vasco, Gessica; Galosi, Serena; Rios, Loreto; Castiglioni, Claudia; Barassi, Claudia; Battaglia, Domenica; Luigia Gambardella, Maria; Cantonetti, Laura; Graziola, Federica; Efisio Marras, Carlo; Castelli, Enrico; Bertini, Enrico; Capuano, Alessandro; Leuzzi, Vincenzo
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
2017 Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease | 2024 | Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni | |
| Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum | 2016 | Nicita, Francesco; Travaglini, Lorena; Sabatini, Sandro; Garavaglia, Barbara; Panteghini, Celeste; Valeriani, Massimiliano; Bertini, Enrico; Nardocci, Nardo; Vigevano, Federico; Capuano, Alessandro | |
| Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination | 2016 | Nicita, Francesco; Bertini, Enrico; Travaglini, Lorena; Armando, Michelina; Aiello, Chiara | |
| Expanding CEP290 mutational spectrum in ciliopathies | 2009 | Travaglini, Lorena; Francesco, Brancati; Tania Attie, Bitach; Sophie, Audollent; Bertini, Enrico; Josseline, Kaplan; Isabelle, Perrault; Miriam, Iannicelli; Brunella, Mancuso; Luciana, Rigoli; Jean Michel, Rozet; Dominika, Swistun; Jerlyn, Tolentino; The International Jsrd Study, Group; Leuzzi, Vincenzo; Parisi, Pasquale; Bruno, Dallapiccola; Joseph G., Gleeson; Enza Maria, Valente | |
| Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia | 2017 | Travaglini, Lorena; Bellacchio, Emanuele; Aiello, Chiara; Pro, Stefano; Bertini, Enrico; Nicita, Francesco | |
| Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene | 2023 | Caputi, Caterina; Federici, Giulia; Soddu, Silvia; Travaglini, Lorena; Piane, Maria; Bertini, Enrico; Zanni, Ginevra; Leuzzi, Vincenzo | |
| Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia | 2018 | Coarelli, Giulia; Romano, Silvia; Travaglini, Lorena; Ferraldeschi, Michela; Nicita, Francesco; Spadaro, Maria; Fornasiero, Arianna; Frontali, Marina; Salvetti, Marco; Bertini, Enrico; Ristori, Giovanni | |
| Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review | 2019 | Schirinzi, Tommaso; Garone, Giacomo; Travaglini, Lorena; Vasco, Gessica; Galosi, Serena; Rios, Loreto; Castiglioni, Claudia; Barassi, Claudia; Battaglia, Domenica; Luigia Gambardella, Maria; Cantonetti, Laura; Graziola, Federica; Efisio Marras, Carlo; Castelli, Enrico; Bertini, Enrico; Capuano, Alessandro; Leuzzi, Vincenzo | |
| Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 | 2017 | Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco |