Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle

por Szentesi, Peter, Dienes, Beatrix, Kutchukian, Candice, Czirjak, Tamas, Buj‐Bello, Ana, Jacquemond, Vincent, Csernoch, László
Publicado 2022

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice

por Lo Scrudato, Mirella, Poulard, Karine, Sourd, Célia, Tomé, Stéphanie, Klein, Arnaud F., Corre, Guillaume, Huguet, Aline, Furling, Denis, Gourdon, Geneviève, Buj-Bello, Ana
Publicado 2019

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy

por Armbruster, Nicole, Lattanzi, Annalisa, Jeavons, Matthieu, Van Wittenberghe, Laetitia, Gjata, Bernard, Marais, Thibaut, Martin, Samia, Vignaud, Alban, Voit, Thomas, Mavilio, Fulvio, Barkats, Martine, Buj-Bello, Ana
Publicado 2016

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

por Lawlor, Michael W., Beggs, Alan H., Buj-Bello, Ana, Childers, Martin K., Dowling, James J., James, Emma S., Meng, Hui, Moore, Steven A., Prasad, Suyash, Schoser, Benedikt, Sewry, Caroline A.
Publicado 2016

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

por Mariot, Virginie, Joubert, Romain, Hourdé, Christophe, Féasson, Léonard, Hanna, Michael, Muntoni, Francesco, Maisonobe, Thierry, Servais, Laurent, Bogni, Caroline, Le Panse, Rozen, Benvensite, Olivier, Stojkovic, Tanya, Machado, Pedro M., Voit, Thomas, Buj-Bello, Ana, Dumonceaux, Julie
Publicado 2017

Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders

por El Andari, Jihad, Renaud-Gabardos, Edith, Tulalamba, Warut, Weinmann, Jonas, Mangin, Louise, Pham, Quang Hong, Hille, Susanne, Bennett, Antonette, Attebi, Esther, Bourges, Emanuele, Leborgne, Christian, Guerchet, Nicolas, Fakhiri, Julia, Krämer, Chiara, Wiedtke, Ellen, McKenna, Robert, Guianvarc’h, Laurence, Toueille, Magali, Ronzitti, Giuseppe, Hebben, Matthias, Mingozzi, Federico, VandenDriessche, Thierry, Agbandje-McKenna, Mavis, Müller, Oliver J., Chuah, Marinee K., Buj-Bello, Ana, Grimm, Dirk
Publicado 2022