Dementia in a Child with Myotubular Myopathy

Por McCrea, Heather J., Kretz, Christine, Laporte, Jocelyn, Ment, Laura R.
Publicado em 2009

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

Por Tasfaout, Hichem, Lionello, Valentina M., Kretz, Christine, Koebel, Pascale, Messaddeq, Nadia, Bitz, Deborah, Laporte, Jocelyn, Cowling, Belinda S.
Publicado no Mol Ther (2018)

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

Por Muñoz, Xènia Massana, Kretz, Christine, Silva-Rojas, Roberto, Ochala, Julien, Menuet, Alexia, Romero, Norma B., Cowling, Belinda S., Laporte, Jocelyn
Publicado no JCI Insight (2020)

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

Por Cowling, Belinda S., Chevremont, Thierry, Prokic, Ivana, Kretz, Christine, Ferry, Arnaud, Coirault, Catherine, Koutsopoulos, Olga, Laugel, Vincent, Romero, Norma B., Laporte, Jocelyn
Publicado em 2014

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Por Tasfaout, Hichem, Buono, Suzie, Guo, Shuling, Kretz, Christine, Messaddeq, Nadia, Booten, Sheri, Greenlee, Sarah, Monia, Brett P., Cowling, Belinda S., Laporte, Jocelyn
Publicado no Nat Commun (2017)

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

Por Cowling, Belinda S., Prokic, Ivana, Tasfaout, Hichem, Rabai, Aymen, Humbert, Frédéric, Rinaldi, Bruno, Nicot, Anne-Sophie, Kretz, Christine, Friant, Sylvie, Roux, Aurélien, Laporte, Jocelyn
Publicado no J Clin Invest (2017)

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Por Koch, Catherine, Buono, Suzie, Menuet, Alexia, Robé, Anne, Djeddi, Sarah, Kretz, Christine, Gomez-Oca, Raquel, Depla, Marion, Monseur, Arnaud, Thielemans, Leen, Servais, Laurent, Laporte, Jocelyn, Cowling, Belinda S.
Publicado no Mol Ther Methods Clin Dev (2020)

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Por Al-Qusairi, Lama, Weiss, Norbert, Toussaint, Anne, Berbey, Céline, Messaddeq, Nadia, Kretz, Christine, Sanoudou, Despina, Beggs, Alan H., Allard, Bruno, Mandel, Jean-Louis, Laporte, Jocelyn, Jacquemond, Vincent, Buj-Bello, Anna
Publicado em 2009

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

Por 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.
Publicado no Proc Natl Acad Sci U S A (2018)

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

Por Buj-Bello, Anna, Fougerousse, Françoise, Schwab, Yannick, Messaddeq, Nadia, Spehner, Danièle, Pierson, Christopher R., Durand, Muriel, Kretz, Christine, Danos, Olivier, Douar, Anne-Marie, Beggs, Alan H., Schultz, Patrick, Montus, Marie, Denèfle, Patrice, Mandel, Jean-Louis
Publicado em 2008

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

Por Prokic, Ivana, Cowling, Belinda S., Kutchukian, Candice, Kretz, Christine, Tasfaout, Hichem, Gache, Vincent, Hergueux, Josiane, Wendling, Olivia, Ferry, Arnaud, Toussaint, Anne, Gavriilidis, Christos, Nattarayan, Vasugi, Koch, Catherine, Lainé, Jeanne, Combe, Roy, Tiret, Laurent, Jacquemond, Vincent, Pilot-Storck, Fanny, Laporte, Jocelyn
Publicado no Dis Model Mech (2020)

An Integrated Diagnosis Strategy for Congenital Myopathies

Por Böhm, Johann, Vasli, Nasim, Malfatti, Edoardo, Le Gras, Stéphanie, Feger, Claire, Jost, Bernard, Monnier, Nicole, Brocard, Julie, Karasoy, Hatice, Gérard, Marion, Walter, Maggie C., Reilich, Peter, Biancalana, Valérie, Kretz, Christine, Messaddeq, Nadia, Marty, Isabelle, Lunardi, Joël, Romero, Norma B., Laporte, Jocelyn
Publicado em 2013

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Por Koutsopoulos, Olga S, Kretz, Christine, Weller, Claudia M, Roux, Aurelien, Mojzisova, Halina, Böhm, Johann, Koch, Catherine, Toussaint, Anne, Heckel, Emilie, Stemkens, Daphne, ter Horst, Simone A J, Thibault, Christelle, Koch, Muriel, Mehdi, Syed Q, Bijlsma, Emilia K, Mandel, Jean-Louis, Vermot, Julien, Laporte, Jocelyn
Publicado em 2013

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Por Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Ousager, Lilian Bomme, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Aldea, Juan José Poza, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Spitale, Allison Brennan, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Publicado em 2012