The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 2... von Muntoni, F

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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis von Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E

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Therapeutic approaches for spinal muscular atrophy (SMA) von Scoto, M, Finkel, R S, Mercuri, E, Muntoni, F

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L.I.3 von Muntoni, F

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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy von Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco

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D.I.1 Novel Neuromuscular Diseases von Muntoni, F

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Diagnosis and new treatments in muscular dystrophies von Manzur, A Y, Muntoni, F

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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping von Mercuri, E., Seferian, A.M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Deconinck, Nicolas, Van Coster, Rudy, Vanlander, Arnaud, Seferian, Andreea, De Lucia, Silvana, Gidaro, Teresa, Brande, Laura Vanden, Servais, Laurent, Kirschner, Janbernd, Borell, Sabine, Mercuri, Eugenio, Brogna, Claudia, Pane, Marika, Fanelli, Lavinia, Norcia, Giulia, Muntoni, Francesco, Brusa, Chiara, Chesshyre, Mary, Maresh, Kate, Pitchforth, Jaqueline, Schottlaender, Lucia, Scoto, Mariacristina, Silwal, Arpana, Trucco, Fedrica

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Update on the management of Duchenne muscular dystrophy von Manzur, A Y, Kinali, M, Muntoni, F

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Muscle histology vs MRI in Duchenne muscular dystrophy von KINALI, M, ARECHAVALA-GOMEZA, V, QUINLIVAN, R. M, GOSALAKKAL, J. A, JAYAWANT, S, NADEAU, A, HUGHES-CARRE, L, MANZUR, A. Y, MERCURI, E, MORGAN, J. E, STRAUB, V, BUSHBY, K, CIRAK, S, SEWRY, C, RUTHERFORD, M, MUNTONI, F, GLOVER, A, GUGLIERI, M, FENG, L, HOLLINGSWORTH, K. G, HUNT, D, JUNGBLUTH, H, ROPER, H. P

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom von Maggi, L, Scoto, M, Cirak, S, Robb, S.A, Klein, A, Lillis, S, Cullup, T, Feng, L, Manzur, A.Y, Sewry, C.A, Abbs, S, Jungbluth, H, Muntoni, F

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Natural history of Ullrich congenital muscular dystrophy von NADEAU, A, KINALI, M, MUNTONI, F, MAIN, M, JIMENEZ-MALLEBRERA, C, ALOYSIUS, A, CLEMENT, E, NORTH, B, MANZUR, A. Y, ROBB, S. A, MERCURI, E

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Deep-phenotyping of the central nervous system in dystrophinopathies: the fear response von Maresh, K, Muntoni, F

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Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in alpha-Dystroglycan-Related Muscular Disorders von Talenti, G., Robson, C., Severino, M. S., Alves, C. A., Chitayat, D., Dahmoush, H., Smith, L., Muntoni, F., Blaser, S. I., D'Arco, F.

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A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs von Edel, L, Grime, C, Robinson, V, Manzur, A, Abel, F, Munot, P, Ridout, D, Scoto, M, Muntoni, F, Chan, E

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Mutations in the tail domain of DYNC1H1 cause dominant spinal: muscular atrophy von HARMS, M. B, ORI-MCKENNEY, K. M, MILLER, L. J, JANI-ACSADI, A, PESTRONK, A, SHY, M. E, MUNTONI, F, VALLEE, R. B, BALOH, R. H, SCOTO, M, TUCK, E. P, BELL, S, MA, D, MASI, S, ALLRED, P, AL-LOZI, M, REILLY, M. M

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Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, N... von Bushby, K., Muntoni, F., Urtizberea, A., Hughes, R., Griggs, R.

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Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study von Ricotti, V., Selby, V., Ridout, D., Domingos, J., Decostre, V., Mayhew, A., Eagle, M., Butler, J., Guglieri, M., Van der Holst, M., Jansen, M., Verschuuren, J.J.G.M., de Groot, I.J.M., Niks, E.H., Servais, L., Straub, V., Voit, T., Hogrel, J.Y., Muntoni, F.

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RYR1 mutations are a common cause of congenital myopathies with central nuclei von Wilmshurst, J.M., Lillis, S., Zhou, H., Pillay, K., Henderson, H., Kress, W., Müller, C.R., Ndondo, A., Cloke, V., Cullup, T., Bertini, E., Boennemann, C., Straub, V., Quinlivan, R., Dowling, J.J., Al- Sarraj, S., Treves, S., Abbs, S., Manzur, A.Y., Sewry, C.A., Muntoni, F., Jungbluth, H.

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis von Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H

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