TRUCCO, FEDERICA

TRUCCO, FEDERICA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili  

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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
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
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 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
Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 1-gen-2022 Trucco, F; Et, Al
Inflammation in children with neuromuscular disorders and sleep disordered breathing 1-gen-2020 Trucco, F; Carruthers, E; Davies, Jc; Simonds, Ak; Bush, A; Tan, Hl.
MANAGEMENT OF CENTRAL APNOEAS – ANALYSIS OFA PAEDIATRIC COHORT REFERRED TO A TERTIARYCARE SLEEP SERVICE 1-gen-2021 Sairah, Akbar*; 1ridma, Jayarathna; 1siobhan, Kenny; 1hannah, Williams; 1alex, Thomas; 1sakina, Dastagir; 1ruth, O’Reilly; 1rishi, Pabary; 1Hui-Leng, Tan; Trucco, F
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 1-gen-2017 Panicucci, Chiara; Fiorillo, Chiara; Moro, Francesca; Astrea, Guja; Brisca, Giacomo; Trucco, Federica; Pedemonte, Marina; Lanteri, Paola; Sciarretta, Lucia; Minetti, Carlo; Santorelli, Filippo M; Bruno, Claudio