TRUCCO, FEDERICA
TRUCCO, FEDERICA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
2023-01-01 Trucco, Federica; Salmin, Francesca; Lizio, Andrea; Coratti, Giorgia; Albamonte, Emilio; Frisoni, Maria Chiara; Mauro, Luca; Carraro, Elena; Palazzo, Giovanni; Lops, Jessica; Cattaneo, Camilla; Pozzi, Susanna; Casiraghi, Jacopo; Di Bari, Alessandra; Berti, Beatrice; Stanca, Giulia; Ricci, Martina; Pane, Marika; Heatwole, Chad; Dilek, Nuran; Mercuri, Eugenio; Sansone, Valeria Ada
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2
2016-01-01 Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
2024-01-01 Mcgrattan, K.; Cerchiari, A.; Conway, E.; Berti, B.; Finkel, R.; Muntoni, F.; Mercuri, E.; Fanelli, L.; Coratti, G.; Sansone, V.; Albamonte, E.; Trucco, F.; Latini, S.; Bertini, E.; D'Amico, A.; Doglio, L.; Stimpson, G.; Baranello, G.; Scoto, M.; Rohwer, A.; Edel, L.; Lofra, R. M.; Bettolo, C. M.; Young, S. D.; Day, J.; Duong, T.; Darras, B.; Pasternak, A.; Montes, J.; Rodriguez-Torres, R.; Chiriboga, C. A.; Hirano, M.; Civitello, M.; Cunningham, Z. Z.; Brandsema, J.; Mayer, H.; Glanzmann, A.; Karagiannis, J.; Baldinetti, F.; Khader, L.; Costa, P.; Lovato, V.; Rastelletti, I.
Capitolo 20_Le Malattie Neuromuscolari
2022-01-01 Trucco, F
Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study
2020-01-01 Trucco, F; Domingos, Jp; Tay, Cg; Ridout, D; Maresh, K; Munot, P; Sarkozy, A; Robb, S; Quinlivan, R; Riley, M; Burch, M; Fenton, M; Wallis, C; Chan, E; Abel, F; Manzur, Ay; Muntoni, F.
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.
2018-01-01 Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G.
Clinical and genetic characterization of Chanarin-Dorfman syndrome
2008-01-01 Bruno, C; Bertini, E; DI ROCCO, M; Cassandrini, D; Ruffa, G; DE TONI, Teresina; Seri, M; Spada, M; LI VOLTI, G; D'Amico, A; Trucco, F; Arca, M; Casali, C; Angelini, C; Dimauro, S; Minetti, Carlo
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail
2022-01-01 Trucco, F
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy
2024-01-01 Trucco, F.; Davies, M.; Zambon, A. A.; Ridout, D.; Abel, F.; Muntoni, F.
Detection of early nocturnal hypoventilation in neuromuscular disorders
2018-01-01 Trucco, Federica; Pedemonte, Marina; Fiorillo, Chiara; Tan, Hui-Leng; Carlucci, Annalisa; Brisca, Giacomo; Tacchetti, Paola; Bruno, Claudio; Minetti, Carlo
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice
2023-01-01 Childs, Anne-Marie; Turner, Catherine; Astin, Ronan; Bianchi, Stephen; Bourke, John; Cunningham, Vicki; Edel, Lisa; Edwards, Christopher; Farrant, Phillippa; Heraghty, Jane; James, Meredith; Massey, Charlotte; Messer, Ben; Michel Sodhi, Jassi; Murphy, Patrick Brian; Schiava, Marianela; Thomas, Ajit; Trucco, Federica; Guglieri, Michela
Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders
2020-05-20 Trucco, Federica
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement
2017-01-01 D'Amico, A; Catteruccia, M; Baranello, G; Politano, L; Govoni, A; Previtali, Sc; Pane, M; D'Angelo, Mg; Bruno, C; Messina, S; Ricci, F; Pegoraro, E; Pini, A; Berardinelli, A; Gorni, K; Battini, R; Vita, G; Trucco, F; Scutifero, M; Petillo, R; D'Ambrosio, P; Ardissone, A; Pasanisi, B; Vita, G; Mongini, T; Moggio, M; Comi, Gp; Mercuri, E; Bertini, E.
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation
2015-01-01 Brisca, G.; Fiorillo, C.; Nesti, C.; Trucco, F.; Derchi, M.; Andaloro, A.; Assereto, S.; Morcaldi, G.; Pedemonte, M.; Minetti, C.; Santorelli, F. M.; Bruno, C.
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
2015-01-01 Biancheri, R; Lamantea, E; Severino, M; Diodato, D; Pedemonte, M; Cassandrini, D; Ploederl, A; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Fm; Zeviani, M; Bruno, C.
Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience
2021-01-01 Jones, S; Hanwell, R; Chowdhury, T; Orgill, J; van den Eshof, K; Farquhar, M; Joseph, D; Gringras, P; Trucco, F
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
2020-01-01 Wadman, Ri; De Amicis, R; Brusa, C; Battezzati, A; Bertoli, S; Davis, T; Main, M; Manzur, A; Mastella, C; Munot, P; Imbrigiotta, N; Schottlaender, L; Sarkozy, A; Trucco, F; Baranello, G; Scoto, M; Muntoni, F.
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.
2016-01-01 Papa, Riccardo; Madia, F; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, P; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
2020-01-01 Bello, L.; D'Angelo, G.; Villa, M.; Fusto, A.; Vianello, S.; Merlo, B.; Sabbatini, D.; Barp, A.; Gandossini, S.; Magri, F.; Comi, G. P.; Pedemonte, M.; Tacchetti, P.; Lanzillotta, V.; Trucco, F.; D'Amico, A.; Bertini, E.; Astrea, G.; Politano, L.; Masson, R.; Baranello, G.; Albamonte, E.; De Mattia, E.; Rao, F.; Sansone, V. A.; Previtali, S.; Messina, S.; Vita, G. L.; Berardinelli, A.; Mongini, T.; Pini, A.; Pane, M.; Mercuri, E.; Vianello, A.; Bruno, C.; Hoffman, E. P.; Morgenroth, L.; Gordish-Dressman, H.; Mcdonald, C. M.; Pegoraro, E.
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study
2022-01-01 Trucco, Federica; Ridout, Deborah; Domingos, Joana; Maresh, Kate; Chesshyre, Mary; Munot, Pinki; Sarkozy, Anna; Robb, Stephanie; Quinlivan, Rosaline; Riley, Mollie; Wallis, Colin; Chan, Elaine; Abel, Francois; De Lucia, Silvana; Hogrel, Jean‐yves; Niks, Erik H.; de Groot, Imelda; Servais, Laurent; Straub, Volker; Ricotti, Valeria; Manzur, Adnan; Muntoni, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach | 1-gen-2023 | Trucco, Federica; Salmin, Francesca; Lizio, Andrea; Coratti, Giorgia; Albamonte, Emilio; Frisoni, Maria Chiara; Mauro, Luca; Carraro, Elena; Palazzo, Giovanni; Lops, Jessica; Cattaneo, Camilla; Pozzi, Susanna; Casiraghi, Jacopo; Di Bari, Alessandra; Berti, Beatrice; Stanca, Giulia; Ricci, Martina; Pane, Marika; Heatwole, Chad; Dilek, Nuran; Mercuri, Eugenio; Sansone, Valeria Ada | |
| Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 | 1-gen-2016 | Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo | |
| Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy | 1-gen-2024 | Mcgrattan, K.; Cerchiari, A.; Conway, E.; Berti, B.; Finkel, R.; Muntoni, F.; Mercuri, E.; Fanelli, L.; Coratti, G.; Sansone, V.; Albamonte, E.; Trucco, F.; Latini, S.; Bertini, E.; D'Amico, A.; Doglio, L.; Stimpson, G.; Baranello, G.; Scoto, M.; Rohwer, A.; Edel, L.; Lofra, R. M.; Bettolo, C. M.; Young, S. D.; Day, J.; Duong, T.; Darras, B.; Pasternak, A.; Montes, J.; Rodriguez-Torres, R.; Chiriboga, C. A.; Hirano, M.; Civitello, M.; Cunningham, Z. Z.; Brandsema, J.; Mayer, H.; Glanzmann, A.; Karagiannis, J.; Baldinetti, F.; Khader, L.; Costa, P.; Lovato, V.; Rastelletti, I. | |
| Capitolo 20_Le Malattie Neuromuscolari | 1-gen-2022 | Trucco, F | |
| Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study | 1-gen-2020 | Trucco, F; Domingos, Jp; Tay, Cg; Ridout, D; Maresh, K; Munot, P; Sarkozy, A; Robb, S; Quinlivan, R; Riley, M; Burch, M; Fenton, M; Wallis, C; Chan, E; Abel, F; Manzur, Ay; Muntoni, F. | |
| Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. | 1-gen-2018 | Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G. | |
| Clinical and genetic characterization of Chanarin-Dorfman syndrome | 1-gen-2008 | Bruno, C; Bertini, E; DI ROCCO, M; Cassandrini, D; Ruffa, G; DE TONI, Teresina; Seri, M; Spada, M; LI VOLTI, G; D'Amico, A; Trucco, F; Arca, M; Casali, C; Angelini, C; Dimauro, S; Minetti, Carlo | |
| Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail | 1-gen-2022 | Trucco, F | |
| Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy | 1-gen-2024 | Trucco, F.; Davies, M.; Zambon, A. A.; Ridout, D.; Abel, F.; Muntoni, F. | |
| Detection of early nocturnal hypoventilation in neuromuscular disorders | 1-gen-2018 | Trucco, Federica; Pedemonte, Marina; Fiorillo, Chiara; Tan, Hui-Leng; Carlucci, Annalisa; Brisca, Giacomo; Tacchetti, Paola; Bruno, Claudio; Minetti, Carlo | |
| Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice | 1-gen-2023 | Childs, Anne-Marie; Turner, Catherine; Astin, Ronan; Bianchi, Stephen; Bourke, John; Cunningham, Vicki; Edel, Lisa; Edwards, Christopher; Farrant, Phillippa; Heraghty, Jane; James, Meredith; Massey, Charlotte; Messer, Ben; Michel Sodhi, Jassi; Murphy, Patrick Brian; Schiava, Marianela; Thomas, Ajit; Trucco, Federica; Guglieri, Michela | |
| Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders | 20-mag-2020 | Trucco, Federica | |
| Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement | 1-gen-2017 | D'Amico, A; Catteruccia, M; Baranello, G; Politano, L; Govoni, A; Previtali, Sc; Pane, M; D'Angelo, Mg; Bruno, C; Messina, S; Ricci, F; Pegoraro, E; Pini, A; Berardinelli, A; Gorni, K; Battini, R; Vita, G; Trucco, F; Scutifero, M; Petillo, R; D'Ambrosio, P; Ardissone, A; Pasanisi, B; Vita, G; Mongini, T; Moggio, M; Comi, Gp; Mercuri, E; Bertini, E. | |
| Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation | 1-gen-2015 | Brisca, G.; Fiorillo, C.; Nesti, C.; Trucco, F.; Derchi, M.; Andaloro, A.; Assereto, S.; Morcaldi, G.; Pedemonte, M.; Minetti, C.; Santorelli, F. M.; Bruno, C. | |
| Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. | 1-gen-2015 | Biancheri, R; Lamantea, E; Severino, M; Diodato, D; Pedemonte, M; Cassandrini, D; Ploederl, A; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Fm; Zeviani, M; Bruno, C. | |
| Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience | 1-gen-2021 | Jones, S; Hanwell, R; Chowdhury, T; Orgill, J; van den Eshof, K; Farquhar, M; Joseph, D; Gringras, P; Trucco, F | |
| Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 | 1-gen-2020 | Wadman, Ri; De Amicis, R; Brusa, C; Battezzati, A; Bertoli, S; Davis, T; Main, M; Manzur, A; Mastella, C; Munot, P; Imbrigiotta, N; Schottlaender, L; Sarkozy, A; Trucco, F; Baranello, G; Scoto, M; Muntoni, F. | |
| Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. | 1-gen-2016 | Papa, Riccardo; Madia, F; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, P; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara | |
| Genetic modifiers of respiratory function in Duchenne muscular dystrophy | 1-gen-2020 | Bello, L.; D'Angelo, G.; Villa, M.; Fusto, A.; Vianello, S.; Merlo, B.; Sabbatini, D.; Barp, A.; Gandossini, S.; Magri, F.; Comi, G. P.; Pedemonte, M.; Tacchetti, P.; Lanzillotta, V.; Trucco, F.; D'Amico, A.; Bertini, E.; Astrea, G.; Politano, L.; Masson, R.; Baranello, G.; Albamonte, E.; De Mattia, E.; Rao, F.; Sansone, V. A.; Previtali, S.; Messina, S.; Vita, G. L.; Berardinelli, A.; Mongini, T.; Pini, A.; Pane, M.; Mercuri, E.; Vianello, A.; Bruno, C.; Hoffman, E. P.; Morgenroth, L.; Gordish-Dressman, H.; Mcdonald, C. M.; Pegoraro, E. | |
| Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study | 1-gen-2022 | Trucco, Federica; Ridout, Deborah; Domingos, Joana; Maresh, Kate; Chesshyre, Mary; Munot, Pinki; Sarkozy, Anna; Robb, Stephanie; Quinlivan, Rosaline; Riley, Mollie; Wallis, Colin; Chan, Elaine; Abel, Francois; De Lucia, Silvana; Hogrel, Jean‐yves; Niks, Erik H.; de Groot, Imelda; Servais, Laurent; Straub, Volker; Ricotti, Valeria; Manzur, Adnan; Muntoni, Francesco |