Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human von Laporte, Jocelyn, Blondeau, François, Buj-Bello, Anna, Tentler, Dimtry, Kretz, Christine, Dahl, Niklas, Mandel, Jean-Louis

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The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice von Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis

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AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy von Danièle, N, Moal, C, Julien, L, Jamet, T, Joubert, R, Martin, S, Vignaud, A, Lawlor, M, Buj-Bello, A

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Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy von Sabha, N, Volpatti, J, Gonorazky, H, Reifler, A, Davidson, A, Buj-Bello, A, Feldman, E, Dowling, J

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Myostatin inhibition for neuromuscular disorders: defining the good candidate von Mariot, V, Joubert, R, Hourdé, C, Servais, L, Hanna, M.G, Maisonobe, T, Muntoni, F, Féasson, L, Le Panse, R, Benvensite, O, Stojkovic, T, Buj-Bello, A, Machado, P, Voit, T, Dumonceaux, J

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X-linked myotubular myopathy in ambulant patients von Annoussamy, M, Chë, V, Lilien, C, Gidaro, T, Daron, A, Mayer, M, Arnal, J, Wallgren-Pettersson, C, Biancalana, V, Laporte, J, Hogrel, J, Ramsdell, D, Landy, H, Buj-Bello, A, Servais, L

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Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy von Elverman, M, Mack, D, Poulard, K, Goddard, M, Snyder, J, Grange, R, Latournerie, V, Veron, P, Meng, H, Mingozzi, F, Lawlor, M, Beggs, A, Childers, M, Buj-Bello, A

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Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells von Buj-Bello, Anna, Furling, Denis, Tronchère, Hélène, Laporte, Jocelyn, Lerouge, Thierry, Butler-Browne, Gillian S., Mandel, Jean-Louis

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Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study von Annoussamy, M, Lilien, C, Gidaro, T, Gargaun, E, Chê, V, Schara, U, Gangfuss, A, Daron, A, Cuisset, J, Mayer, M, Arnal, J, Hernandez, A, Vuillerot, C, Fontaine, S, Biancalana, V, Buj-Bello, A, Hogrel, J, Landy, H, Servais, L

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G.P.43 von Buscara, L, Joubert, R, Moal, C, Poulard, K, Martin, S, Vignaud, A, Mavilio, F, Buj-Bello, A

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P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice von Danièle, N, Jamet, T, Moal, C, Joubert, R, Messaddeq, N, Lawlor, M.W, Vignaud, A, Buj-Bello, A

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G.P.41 von Mack, D.L, Goddard, M, Snyder, J.M, Doering, J, Lawlor, M.W, Moullier, P, O’Callaghan, M, Beggs, A.H, Mavilio, F, Poulard, K, Latournerie, V, Buj-Bello, A, Childers, M

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Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study von R'guiba, N, Annoussamy, M, Cardas, R, Lilien, C, Ollivier, G, Muntoni, F, Bönnemann, C, Biancalana, V, Cuisset, J, Mayer, M, Landy, H, Ramsdell, D, Nelken, M, Le Moing, A, Gidaro, T, Mingozzi, F, Buj-Bello, A, Hogrel, J.Y, Voit, T, Servais, L

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Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose... von Mack, D, Poulard, K, Goddard, M, Snyder, J, Grange, R, Doering, J, Strande, J, Latournerie, V, Veron, P, Yang, L, Buscara, L, Le Bec, C, Martin, S, O'Callaghan, M, Mingozzi, F, Beggs, A, Lawlor, M, Mavilio, F, Childers, M, Buj-Bello, A

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O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy von Joubert, R, Moal, C, Vignaud, A, Martin, S, Richard, I, Moullier, P, Beggs, A.H, Childers, M.K, Mavilio, F, Buj-Bello, A

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G.P.39 von 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

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P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy von Childers, M.K, Joubert, R, Poulard, K, Holder, M.N, Grange, R.W, Doering, J, Lawlor, M.W, Moal, C, Jamet, T, Danièle, N, Martin, C, Rivière, C, Poppante, K, Soker, T, Hammer, C, Van Wittenberghe, L, Guan, X, Goddard, M, Mitchell, E, Barber, J, Furth, M.E, Vignaud, A, Masurier, C, Moullier, P, Beggs, A.H, Buj-Bello, A

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P1.44 Neuromuscular junction abnormalities and myotubular myopathy von Dowling, J.J, Dulin-Smith, A.N, Poulard, K, Fries, L, Buj-Bello, A, Pierson, C.R

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X-linked myotubular myopathy: A prospective international natural history study von Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, DʼAmico, Adele, Dowling, James J, Darras, Basil T, Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves, Landy, Hal, Servais, Laurent

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T.O.4 Development of AAV-gene and protein-based therapies for X-linked myotubular myopathy von Beggs, A.H, Jamet, T, Joubert, R, Furth, M.E, Holder, M.N, Grange, R.W, Lawlor, M.W, Viola, M, Poulard, K, Masurier, C, Martin, S, Rivière, C, Poppante, K, Soker, T, Hammer, C, Vignaud, A, Wittenberghe, L. Van, Messaddeq, N, Guan, X, Goddard, M, Mitchell, E, Barber, J, Danièle, N, Widrick, J.J, Pierson, C.R, Moullier, P, Armstrong, D, Childers, M.K, Buj-Bello, A

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