MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo, C, Astrea, G, Savarese, M, Cassandrini, D, Brisca, G, Trucco, F, Pedemonte, M, Trovato, R, Ruggiero, L, Vercelli, L, D'Amico, A, Tasca, G, Pane, M, Fanin, M, Bello, L, Broda, P, Musumeci, O, Rodolico, C, Messina, S, Vita, G L, Sframeli, M, Gibertini, S, Morandi, L, Mora, M, Maggi, L, Petrucci, A, Massa, R, Grandis, M, Toscano, A, Pegoraro, E, Mercuri, E, Bertini, E, Mongini, T, Santoro, L, Nigro, V, Minetti, C, Santorelli, F M, Bruno, C
Published in Orphanet journal of rare diseases (07.07.2016)
Published in Orphanet journal of rare diseases (07.07.2016)
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Journal Article
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease
Covone, A.E., Fiorillo, C., Acquaviva, M., Trucco, F., Morana, G., Ravazzolo, R., Minetti, C.
Published in Clinical genetics (01.08.2016)
Published in Clinical genetics (01.08.2016)
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Journal Article
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2
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, C.
Published in European journal of neurology (01.04.2016)
Published in European journal of neurology (01.04.2016)
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Journal Article
48 Characteristics of initial sleep study in infants with Prader Willi Syndrome
Gardener, Laura, Ghosh, N, Pabary, R, Bridges, N, Trucco, F, Tan, H, O’Reilly, Ruth
Published in BMJ open respiratory research (03.11.2021)
Published in BMJ open respiratory research (03.11.2021)
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Journal Article
Tele-Assistance in pediatric neuromuscular disorders requiring home mechanical ventilation, multicentric study
Trucco, F, Pedemonte, M, Racca, F, Falsaperla, R, Romano, C, Wenzel, A, Tacchetti, P, Bella, C, Bruno, C, Minetti, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Surgical correction of scoliosis in patients with congenital myopathies
Trucco, F, Andaloro, A, Pedemonte, M, Lanzillotta, V, Panicucci, C, Fiorillo, C, Becchetti, F, Minetti, C, Bruno, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
X-linked myotubular myopathy in females
Fiorillo, C, Fattori, F, Astrea, G, Pedemonte, M, Rubegni, A, Trucco, F, Tessa, A, Savarese, M, Baldacci, J, Broda, P, Bertini, E, Minetti, C, Nigro, V, Bruno, C, Santorelli, F
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
G.P.11.02 Early-onset neutral lipid storage disease with myopathy due to PNPLA2 mutations
Cassandrini, D, Trucco, F, Scapolan, S, Magnano, G.M, Pessano, S, Scuderi, F, Rossi, A, Pedemonte, M, Minetti, C, Bruno, C
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
DMD – CLINICAL CARE
Zambon, A., Laverty, A., Riley, M., Ridout, D., Manzur, A., Abel, F., Trucco, F., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
DMD – CLINICAL CARE: EP.99 Respiratory function and sleep-disordered breathing in Duchenne muscular dystrophy
Zambon, A., Laverty, A., Riley, M., Ridout, D., Manzur, A., Abel, F., Trucco, F., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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EP.65Normal respiratory function in a young adult with Duchenne muscular dystrophy – the possible role of supplements
Trucco, F., Pietrusz, A., Sarkozy, A., Scoto, M., Munot, P., Manzur, A., Muntoni, F., Quinlivan, R.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
P.223Respiratory function in SMA type 2 and non-ambulant SMA type 3, longitudinal data from the international SMA consortium (iSMAc)
Trucco, F., Ridout, D., Finkel, R., Mercuri, E., Scoto, M., Muntoni, F., I. international SMA consortium
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
P.112 Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3
Trucco, F., Weststrate, H., Ridout, D., Scoto, M., Rohwer, A., Coratti, G., Main, M., Pane, M., Messina, S., D'Amico, A., Bruno, C., De Vivo, D., Darras, B., Day, J., Baranello, G., Sansona, V., Bertini, E., Finkel, R., Mercuri, E., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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EP.80The effects of steroid treatment on respiratory function in adults with Duchenne muscular dystrophy after loss of ambulation
Pietrusz, A., Desikan, M., Trucco, F., Manzur, A., Muntoni, F., Guglieri, M., Hilton-Jones, D., Burke, G., Hammans, S., Davies, N., Quinlivan, R.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
P.208 - Tele-Assistance in pediatric neuromuscular disorders requiring home mechanical ventilation, multicentric study
Trucco, F., Pedemonte, M., Racca, F., Falsaperla, R., Romano, C., Wenzel, A., Tacchetti, P., Bella, C., Bruno, C., Minetti, C.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
G.P.305 - Surgical correction of scoliosis in patients with congenital myopathies
Trucco, F., Andaloro, A., Pedemonte, M., Lanzillotta, V., Panicucci, C., Fiorillo, C., Becchetti, F., Minetti, C., Bruno, C.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD 2
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, C.
Published in European journal of neurology (01.04.2016)
Published in European journal of neurology (01.04.2016)
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Journal Article