Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances von Gomez-Oca, Raquel, Cowling, Belinda S., Laporte, Jocelyn

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Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes von Arbogast, Thomas, Ouagazzal, Abdel-Mouttalib, Chevalier, Claire, Kopanitsa, Maksym, Afinowi, Nurudeen, Migliavacca, Eugenia, Cowling, Belinda S, Birling, Marie-Christine, Champy, Marie-France, Reymond, Alexandre, Herault, Yann

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Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation von Cowling, Belinda S, Prokic, Ivana, Tasfaout, Hichem, Rabai, Aymen, Humbert, Frédéric, Rinaldi, Bruno, Nicot, Anne-Sophie, Kretz, Christine, Friant, Sylvie, Roux, Aurélien, Laporte, Jocelyn

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Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice von Tasfaout, Hichem, Buono, Suzie, Guo, Shuling, Kretz, Christine, Messaddeq, Nadia, Booten, Sheri, Greenlee, Sarah, Monia, Brett P., Cowling, Belinda S., Laporte, Jocelyn

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Amphiphysin 2 (BIN1) in physiology and diseases von Prokic, Ivana, Cowling, Belinda S., Laporte, Jocelyn

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Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice von Tasfaout, Hichem, Lionello, Valentina M., Kretz, Christine, Koebel, Pascale, Messaddeq, Nadia, Bitz, Deborah, Laporte, Jocelyn, Cowling, Belinda S.

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Different in vivo impacts of dynamin 2 mutations implicated in Charcot–Marie–Tooth neuropathy or centronuclear myopathy von Massana Muñoz, Xènia, Buono, Suzie, Koebel, Pascale, Laporte, Jocelyn, Cowling, Belinda S

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Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy von Gómez-Oca, Raquel, Edelweiss, Evelina, Djeddi, Sarah, Gerbier, Mathias, Massana-Muñoz, Xènia, Oulad-Abdelghani, Mustapha, Crucifix, Corinne, Spiegelhalter, Coralie, Messaddeq, Nadia, Poussin-Courmontagne, Pierre, Koebel, Pascale, Cowling, Belinda S., Laporte, Jocelyn

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Translational medicine in neuromuscular disorders: from academia to industry von Cowling, Belinda S., Thielemans, Leen

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Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy von Buono, Suzie, Ross, Jacob A., Tasfaout, Hichem, Levy, Yotam, Kretz, Christine, Tayefeh, Leighla, Matson, John, Guo, Shuling, Kessler, Pascal, Monia, Brett P., Bitoun, Marc, Ochala, Julien, Laporte, Jocelyn, Cowling, Belinda S.

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BIN1 modulation in vivo rescues dynamin-related myopathy von Lionello, Valentina Maria, Kretz, Christine, Edelweiss, Evelina, Crucifix, Corinne, Gómez-Oca, Raquel, Messaddeq, Nadia, Buono, Suzie, Koebel, Pascale, Massana Muñoz, Xènia, Diedhiou, Nadège, Cowling, Belinda S, Bitoun, Marc, Laporte, Jocelyn

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Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy von Gayi, Elinam, Neff, Laurence A., Massana Muñoz, Xènia, Ismail, Hesham M., Sierra, Marta, Mercier, Thomas, Décosterd, Laurent A., Laporte, Jocelyn, Cowling, Belinda S., Dorchies, Olivier M., Scapozza, Leonardo

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Defective membrane remodeling in neuromuscular diseases: insights from animal models von Cowling, Belinda S, Toussaint, Anne, Muller, Jean, Laporte, Jocelyn

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Reducing dynamin 2 expression rescues X-linked centronuclear myopathy von Cowling, Belinda S, Chevremont, Thierry, Prokic, Ivana, Kretz, Christine, Ferry, Arnaud, Coirault, Catherine, Koutsopoulos, Olga, Laugel, Vincent, Romero, Norma B, Laporte, Jocelyn

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Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice von Amoasii, Leonela, Bertazzi, Dimitri L, Tronchère, Hélène, Hnia, Karim, Chicanne, Gaëtan, Rinaldi, Bruno, Cowling, Belinda S, Ferry, Arnaud, Klaholz, Bruno, Payrastre, Bernard, Laporte, Jocelyn, Friant, Sylvie

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Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy von Fouarge, Eve, Monseur, Arnaud, Boulanger, Bruno, Annoussamy, Melanie, Seferian, Andreea M., De Lucia, Silvana, Lilien, Charlotte, Thielemans, Leen, Paradis, Khazal, Cowling, Belinda S., Freitag, Chris, Carlin, Bradley P., Servais, Laurent

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Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes von Silva-Rojas, Roberto, Nattarayan, Vasugi, Jaque-Fernandez, Francisco, Gomez-Oca, Raquel, Menuet, Alexia, Reiss, David, Goret, Marie, Messaddeq, Nadia, Lionello, Valentina M., Kretz, Christine, Cowling, Belinda S., Jacquemond, Vincent, Laporte, Jocelyn

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The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle von Lo, Harriet P, Nixon, Susan J, Hall, Thomas E, Cowling, Belinda S, Ferguson, Charles, Morgan, Garry P, Schieber, Nicole L, Fernandez-Rojo, Manuel A, Bastiani, Michele, Floetenmeyer, Matthias, Martel, Nick, Laporte, Jocelyn, Pilch, Paul F, Parton, Robert G

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Centronuclear myopathies under attack: A plethora of therapeutic targets von Tasfaout, Hichem, Cowling, Belinda S., Laporte, Jocelyn

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Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy von Raess, Matthieu A, Cowling, Belinda S, Bertazzi, Dimitri L, Kretz, Christine, Rinaldi, Bruno, Xuereb, Jean-Marie, Kessler, Pascal, Romero, Norma B, Payrastre, Bernard, Friant, Sylvie, Laporte, Jocelyn

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