Search Results - "Sansone, V.A."

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27–29 June 2014, Naarden, The Netherlands by Sansone, V.A, Gagnon, C

“…Highlights • We assessed management of respiratory involvement in the EU, US and Canada. • We agreed on a preliminary respiratory symptom check-list for…”
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The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes by Sansone, V.A, Brigonzi, E, Schoser, B, Villani, S, Gaeta, M, De Ambroggi, G, Bandera, F, De Ambroggi, L, Meola, G

“…Abstract Background Frequency and severity of cardiac involvement in DM2 are still controversial. The aims of our study were to determine the frequency and…”
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Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies by Passeri, E, Bugiardini, E, Sansone, V.A, Valaperta, R, Costa, E, Ambrosi, B, Meola, G, Corbetta, S

“…Abstract Parathyroid function in Myotonic Dystrophy (DM) patients has been poorly investigated. Parathyroid and muscle parameters were assessed in 31 male DM1…”
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Use of the Intermittent Abdominal Pressure Ventilation to guarantee speech in a tracheostomized Amyotrophic Lateral Sclerosis patient by De Mattia, E, Iatomasi, M, Garabelli, B, Lunetta, C, Sansone, V.A, Rao, F

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1st Italian SMA Family Association Consensus Meeting by Sansone, V.A, Racca, F, Ottonello, G, Vianello, A, Berardinelli, A, Crescimanno, G, Casiraghi, J.L

“…Highlights • This paper reviews and updates recommendations for respiratory care stratified by disease type and severity. • Specifically the paper describes…”
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Cervical ataxia in Myotonic Dystrophy type 1: preliminary findings by Scarano, S., Caronni, A., Carraro, E., Rota, V., Amadei, M., Malloggi, C., Tesio, L., Sansone, V.A.

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Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy by Passeri, E., Sansone, V.A., Sconfienza, L.M., Messina, C., Meola, G., Corbetta, S.

“…•Fragility fractures rate was 11% of DM1 and 15% of DM2 patients.•In DM patients spine and hip osteoporosis was rare (< 10%) and mild hip osteopenia was the…”
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Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): Interim results from the phase 2 nurture study by Ryan, M.M., De Vivo, D.C., Bertini, E., Hwu, W.L., Crawford, T.O., Swoboda, K.J., Finkel, R.S., Kirschner, J., Kuntz, N.L., Parsons, J., Butterfield, R.J., Topaloglu, H., Omran, T. Ben, Sansone, V.A., Jong, Y.J., Shu, F., Foster, R., Bhan, I., Fradette, S., Farwell, W.

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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe by Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., Laforêt, P., van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J.

“…•The FSHD European Trial Network (FSHD ETN) will have an open membership.•There will be four working groups (WG) on clinical and genetic diagnosis (WG 1),…”
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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 by 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., 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

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