T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphataseLama Al‐Qusairi, Anna Buj‐Bello, Despina Sanoudou et al.|Proceedings of the National Academy of Sciences|2009Cited by 186
Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular MyopathyMartin K. Childers, Anna Buj‐Bello, Romain Joubert et al.|Science Translational Medicine|2014Cited by 170
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasisAnna Buj‐Bello, Jean‐Louis Mandel, Françoise Fougerousse et al.|Human Molecular Genetics|2008Cited by 127
<i>MTM1</i> mutation associated with X-linked myotubular myopathy in Labrador RetrieversAlan H. Beggs, G. Diane Shelton, Johann Böhm et al.|Proceedings of the National Academy of Sciences|2010Cited by 116
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathyMichael W. Lawlor, Alan H. Beggs, Dustin Armstrong et al.|Human Molecular Genetics|2013Cited by 82