Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human
Laporte, Jocelyn, Blondeau, François, Buj-Bello, Anna, Tentler, Dimtry, Kretz, Christine, Dahl, Niklas, Mandel, Jean-Louis
Published in Human molecular genetics (01.10.1998)
Published in Human molecular genetics (01.10.1998)
Get full text
Journal Article
Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy
Sabha, N, Volpatti, J, Gonorazky, H, Reifler, A, Davidson, A, Buj-Bello, A, Feldman, E, Dowling, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy
Danièle, N, Moal, C, Julien, L, Jamet, T, Joubert, R, Martin, S, Vignaud, A, Lawlor, M, Buj-Bello, A
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Myostatin inhibition for neuromuscular disorders: defining the good candidate
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
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
Get full text
Journal Article
Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy
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
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
X-linked myotubular myopathy in ambulant patients
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
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice
Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
Get full text
Journal Article
Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
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
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
G.P.43
Buscara, L, Joubert, R, Moal, C, Poulard, K, Martin, S, Vignaud, A, Mavilio, F, Buj-Bello, A
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
Get full text
Journal Article
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
Buj-Bello, Anna, Furling, Denis, Tronchère, Hélène, Laporte, Jocelyn, Lerouge, Thierry, Butler-Browne, Gillian S., Mandel, Jean-Louis
Published in Human molecular genetics (15.09.2002)
Published in Human molecular genetics (15.09.2002)
Get full text
Journal Article
P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice
Danièle, N, Jamet, T, Moal, C, Joubert, R, Messaddeq, N, Lawlor, M.W, Vignaud, A, Buj-Bello, A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
Get full text
Journal Article
G.P.41
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
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
Get full text
Journal Article
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 escalation study
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
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article
Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
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
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article
O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
Joubert, R, Moal, C, Vignaud, A, Martin, S, Richard, I, Moullier, P, Beggs, A.H, Childers, M.K, Mavilio, F, Buj-Bello, A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
Get full text
Journal Article
G.P.39
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
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
Get full text
Journal Article
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
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
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
Get full text
Journal Article
P1.44 Neuromuscular junction abnormalities and myotubular myopathy
Dowling, J.J, Dulin-Smith, A.N, Poulard, K, Fries, L, Buj-Bello, A, Pierson, C.R
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
Get full text
Journal Article
T.O.4 Development of AAV-gene and protein-based therapies for X-linked myotubular myopathy
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
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
Get full text
Journal Article
T.P.5.05 Muscle-specific expression of myotubularin ameliorates the phenotype of targeted muscles in mouse models of X-linked myotubular myopathy
Jamet, T, Fougerousse, F, Guerchet, N, Douar, A, Mandel, J.L, Montus, M, Buj-Bello, A
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
Get full text
Journal Article