The myotubularin family : from genetic disease to phosphoinositide metabolismLAPORTE, Jocelyn; BLONDEAU, Francois; BUJ-BELLO, Anna et al.Trends in genetics (Regular ed.). 2001, Vol 17, Num 4, pp 221-228, issn 0168-9525Article

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cellsBUJ-BELLO, Anna; FURLING, Denis; TRONCHERE, Hélène et al.Human molecular genetics (Print). 2002, Vol 11, Num 19, pp 2297-2307, issn 0964-6906Article

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasisBUJ-BELLO, Anna; FOUGEROUSSE, Francoise; BEGGS, Alan H et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2132-2143, issn 0964-6906, 12 p.Article

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeBIANCALANA, Valérie; CARON, Olivier; MANDEL, Jean-Louis et al.Human genetics. 2003, Vol 112, Num 2, pp 135-142, issn 0340-6717, 8 p.Article

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypePIERSON, Christopher R; DULIN-SMITH, Ashley N; BUJ-BELLO, Anna et al.Human molecular genetics (Print). 2012, Vol 21, Num 4, pp 811-825, issn 0964-6906, 15 p.Article

Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell EngraftmentLAWLOR, Michael W; ALEXANDER, Matthew S; BUJ-BELLO, Anna et al.The American journal of pathology. 2012, Vol 181, Num 3, pp 961-968, issn 0002-9440, 8 p.Article

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient MiceLAWLOR, Michael W; READ, Benjamin P; BEGGS, Alan H et al.The American journal of pathology. 2011, Vol 178, Num 2, pp 784-793, issn 0002-9440, 10 p.Article