A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Authors: Leone, Daniela, de Sanctis, Roberto, Forcina, Nicola, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Versaci, Antonio, Rulli, Imma, Gitto, Eloisa, Faraone, Cristina, La Foresta, Stefania, Macrì, Maria, Colia, Giulia, Bonetti, Anna Maria, Carlesi, Adelina, Cutrera, Renato, Chiarini, Maria Beatrice, Ferretti, Marta, Garaventa, Alberto, Montobbio, Giovanni, Gandolfo, Carlo, Iurilli, Valentina, Tacchetti, Paola, Bobeica, Emilia, D'Agostino, Alessia, Pirola, Alice, Lupone, Sara, De Mattia, Elisa, Falcier, Elisa, Rao, Fabrizio, Casiraghi, Jacopo, Salmin, Francesca, Grandi, Cristina, Fedeli, Fausto, Mancini, Luca, Stoia, Paolo, Heinen, Maurizio, Cozzi, Valeria, Travaglia, Beatrice, Mizzotti, Emma, Sansone, V.A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., Mercuri, E.

Source: In European Journal of Paediatric Neurology July 2018 22(4):729-731

Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen.

Authors: Sansone, V. A., Coratti, G., Pera, M. C., Pane, M., Messina, S., Salmin, F., Albamonte, E., De Sanctis, R., Sframeli, M., Di Bella, V., Morando, S., d'Amico, A., Frongia, A. L., Antonaci, L., Pirola, A., Pedemonte, M., Bertini, E., Bruno, C., Mercuri, E., Di Bari, Alessandra

Source: European Journal of Neurology; Feb2021, Vol. 28 Issue 2, p602-608, 7p

Subject Terms: SPINAL muscular atrophy, ADULTS, MEDICAL registries, DISEASE duration

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P.122 - Autonomic nervous system involvement in spinal muscular atrophy type 1, 2 and 3

Authors: Messina, S., Sframeli, M., Vita, G., Stancanelli, C., Terranova, C., Rizzo, E., Cavallaro, F., Girlanda, P.

Source: In Neuromuscular Disorders October 2017 27 Supplement 2:S133-S134

P.37 - Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutation

Authors: Sframeli, M., La Rosa, M., Distefano, M., Barcellona, C., Vita, G., Nicocia, G., Astrea, G., D'Amico, A., Bertini, E., Santorelli, F., Messina, S.

Source: In Neuromuscular Disorders October 2017 27 Supplement 2:S109-S109

P.17 - Insights into bone mineral density and bone metabolism in Duchenne muscular dystrophy

Authors: Sframeli, M., Vita, G., Catalano, A., Distefano, M., La Rosa, M., Barcellona, C., Bonanno, C., Nicocia, G., Profazio, C., Morabito, N., Lunetta, C., Messina, S.

Source: In Neuromuscular Disorders October 2017 27 Supplement 2:S103-S103

OD08 - STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

Authors: Zaharieva, I., Sarkozy, A., Manzur, A., Munot, P., O’Grady, G., Rendu, J., Amthor, H., Servais, L., Malfatti, E., Dixon, J., Poke, G., Donkervoort, S., Foley, A.R., Neto, O.L.A., Davis, M.R., Urtizberea, J.A., Bastaki, L., Romero, N.B., Oates, E.C., Holmes, C., Williams, G., Sframeli, M., Yum, S., Medne, L., Roy, S.Q., Fauré, J., Feng, L., Morgan, J.E., Bönnemann, C.G., Phadke, R., Sewry, C.A., Treves, S., Muntoni, F.

Source: In Neuromuscular Disorders March 2017 27 Supplement 1:S39-S39

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Authors: Sansone, V.A.^1,2,3,4,5 valesans65@gmail.com, Pane, M.^1,2,3,4,5, Messina, S.^1,2,3,4,5, Bruno, C.^1,2,3,4,5, D'Amico, A.^1,2,3,4,5, Albamonte, E.^1,2,3,4,5, Catteruccia, M.^1,2,3,4,5, Sframeli, M.^1,2,3,4,5, Pedemonte, M.^1,2,3,4,5, Vita, G.^1,2,3,4,5, Bertini, E.^1,2,3,4,5, Mercuri, E.^1,2,3,4,5

Source: European Journal of Paediatric Neurology. Jul2018, Vol. 22 Issue 4, p729-731. 3p.

G.P.279 - Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period

Authors: Sframeli, M. ^*, Sarkozy, A., Bertoli, M., Astrea, G., Hudson, J., Scoto, M., Mein, R., Yau, M., Phadke, R., Feng, L., Sewry, C., Robb, S., Manzur, A., Messina, S., Bushby, K., Muntoni, F.

Source: In Neuromuscular Disorders October 2015 25 Supplement 2:S269-S270

G.P.272 - Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies

Authors: Sarkozy, A. ^*, Torelli, S., Barresi, R., Bertoli, M., Sframeli, M., Mein, R., Yau, M., Sewry, C., Phadke, R., Feng, L., Ala, P., Manzur, A., Bushby, K., Lochmüller, H., Willis, T., Norwood, F., Rakowicz, R., Muntoni, F.

Source: In Neuromuscular Disorders October 2015 25 Supplement 2:S267-S268

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G.P.314: Alpha-dystroglycanopathy: Two new patients with GMPPB mutations and a mild limb-girdle phenotype

Authors: Sframeli, M., Sarkozy, A., Longman, C., Feng, L., Robb, S., Manzur, A.Y., Mein, R., Yau, M., Barresi, R., Phadke, R., Sewry, C., Muntoni, F.

Source: In Neuromuscular Disorders October 2014 24(9-10):916-916

G.P.261: Whole exome sequencing in patients with congenital myopathies

Authors: Zaharieva, I.T., Colombo, I., Sframeli, M., Sigurðsson, J.H., Feng, L., Phadke, R., Sewry, C.A., Morgan, J.E., Muntoni, F.

Source: In Neuromuscular Disorders October 2014 24(9-10):895-895

G.P.207: Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of congenital muscular dystrophies: Analysis of the UK diagnostic service 2001–2013

Authors: Sframeli, M., Sarkozy, A., Astrea, G., Scoto, M., Feng, L., Mein, R., Yau, M., Phadke, R., Sewry, C., Messina, S., Robb, S., Muntoni, F.

Source: In Neuromuscular Disorders October 2014 24(9-10):879-879

G.P.100 : Pilot study of flavocoxid in ambulant DMD patients

Authors: Messina, S., Vita, G.L., Licata, N., Sframeli, M., Bitto, A., Distefano, M.G., Barcellona, C., Rosa, M. La, Romeo, S., Ciranni, A., Aguennouz, M., Squadrito, F., Vita, G.

Source: In Neuromuscular Disorders October 2014 24(9-10):825-825

P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies

Authors: Stevens, E., Rivas, E., Belaya, K., Sframeli, M., Maxwell, S., Torelli, S., Martin, P., Cossins, J., Beeson, D., Muntoni, F.

Source: In Neuromuscular Disorders March 2014 24 Supplement 1:S23-S23

P17 Whole exome sequencing in patients with congenital myopathies

Authors: Zaharieva, I., Colombo, I., Sframeli, M., Sigurdsson, J.H., Feng, L., Phadke, R., Sewry, C.A., Morgan, J.E., Muntoni, F.

Source: In Neuromuscular Disorders March 2014 24 Supplement 1:S11-S11

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.

Authors: Bello L (AUTHOR), Piva L (AUTHOR), Barp A (AUTHOR), Taglia A (AUTHOR), Picillo E (AUTHOR), Vasco G (AUTHOR), Pane M (AUTHOR), Previtali SC (AUTHOR), Torrente Y (AUTHOR), Gazzerro E (AUTHOR), Motta MC (AUTHOR), Grieco GS (AUTHOR), Napolitano S (AUTHOR), Magri F (AUTHOR), D'Amico A (AUTHOR), Astrea G (AUTHOR), Messina S (AUTHOR), Sframeli M (AUTHOR), Vita GL (AUTHOR), Boffi P (AUTHOR)

Source: Neurology. 7/10/2012, Vol. 79 Issue 2, p159-162. 4p.

T.P.52 Pilot study of flavocoxid in ambulant DMD patients

Authors: Messina, S., Vita, G.L., Sframeli, M., Licata, N., Cama, A., Ciranni, A., Romeo, S., Aguennouz, M., Vita, G.

Source: In Neuromuscular Disorders October 2012 22(9-10):866-867

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