Search Results - "Seferian, A.M."

P.1.7 Contiguous gene syndrome causing ColVI myopathy, dysmorphism, frontal atrophy and diaphragmatic hernia by Seferian, A.M, Vandenbrande, L, Allamand, V, de Becdelievre, A, Richard, P, Lyonnet, S, Malan, V, Servais, L

“…Collagen VI (Col6) deficiency results in a broad spectrum of clinical manifestations ranging from Ullrich Congenital Muscular Dystrophy (UCMD) to Bethlem…”
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P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl by Servais, L, Quijano-Roy, S, Seferian, A.M, Allamand, V, Baumann, C, Richard, P, Estournet, B, Carlier, R, Fardeau, M, Voit, T, Romero, N.B

“…We report on a 5-year-old girl who presents with an association between a congenital muscular dystrophy, and very peculiar abnormalities on muscle biopsy. The…”
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T.P.13 by Seferian, A.M, Moraux, A, Annoussamy, M, Canal, A, Decostre, V, Diebate, O, Le Moing, A.G, Gidaro, T, Deconinck, N, Parys, F. Van, Vereecke, W, Wittevrongel, S, Mayer, M, Maincent, K, Desguerre, I, Themar-Noel, C, Cuisset, J.M, Tiffereau, V, Denis, S, Jousten, V, Quijano-Roy, S, Voit, T, Hogrel, J.Y, Servais, L

“…Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially important to evaluate efficacy of new treatments in non-ambulant patients…”
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G.P.39 by Annoussamy, M, Landy, H, Ramsdell, D, Nelken, M, Muntoni, F, Bönnemann, C, Bharucha, D, Dowling, J.J, Amburgey, K, Lilien, C, Ollivier, G, Laporte, J, Biancalana, V, Schara, U, Cuisset, J.M, D’Amico, A, Deconinck, N, Jeannet, P.Y, Klein, A, Fluss, J, Mayer, M, Seferian, A.M, Moing, A.G. Le, Gidaro, T, Hogrel, J.Y, Mingozzi, F, Buj-Bello, A, Voit, T, Servais, L

“…X-linked myotubular myopathy (XLMTM) is the most severe form of centronuclear myopathy affecting approximately 1 in 50,000 male newborns. Phenotype varies from…”
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P.6.1 Clinical and upper limb evaluation at one year of non-ambulant patients with spinal muscular atrophy by Seferian, A.M, Moraux, A, Benali, M, Canal, A, Decostre, V, Diebate, O, Deconinck, N, Parys, F. Van, Vereecke, W, Wittevrongel, S, Jousten, V, Denis, S, Cuisset, J.M, Tiffreau, V, Mayer, M, Desguerre, I, Maincent, K, Themar-Noel, C, Quijano-Roy, S, Voit, T, Hogrel, J.Y, Servais, L

“…Spinal muscular atrophy (SMA) is recessive hereditary disease of the anterior horn cells caused by deletions or mutations of the SMN1 gene. The loss of muscle…”
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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 by 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

“…•First clinical trial of eteplirsen in patients with DMD aged 6 to 48 months.•Safety experience was consistent with the known safety profile of…”
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T.P.13: Upper limb performance changes during a one-year follow-up in non-ambulant patients with Duchenne muscular dystrophy by Seferian, A.M., Moraux, A., Annoussamy, M., Canal, A., Decostre, V., Diebate, O., Le Moing, A.G., Gidaro, T., Deconinck, N., Parys, F. Van, Vereecke, W., Wittevrongel, S., Mayer, M., Maincent, K., Desguerre, I., Themar-Noel, C., Cuisset, J.M., Tiffereau, V., Denis, S., Jousten, V., Quijano-Roy, S., Voit, T., Hogrel, J.Y., Servais, L.

“…Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially important to evaluate efficacy of new treatments in non-ambulant patients…”
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G.P.39: An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy by Annoussamy, M., Landy, H., Ramsdell, D., Nelken, M., Muntoni, F., Bönnemann, C., Bharucha, D., Dowling, J.J., Amburgey, K., Lilien, C., Ollivier, G., Laporte, J., Biancalana, V., Schara, U., Cuisset, J.M., D’Amico, A., Deconinck, N., Jeannet, P.Y., Klein, A., Fluss, J., Mayer, M., Seferian, A.M., Moing, A.G. Le, Gidaro, T., Hogrel, J.Y., Mingozzi, F., Buj-Bello, A., Voit, T., Servais, L.

“…X-linked myotubular myopathy (XLMTM) is the most severe form of centronuclear myopathy affecting approximately 1 in 50,000 male newborns. Phenotype varies from…”
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