AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
Anna Buj‐Bello(Pediatrics and Genetics), Jean‐Louis Mandel(Centre National de la Recherche Scientifique), Alan H. Beggs(Boston Children's Hospital), Patrice Denèfle(Sofia University), Muriel Durand(Genethon (France)), Yannick Schwab(European Molecular Biology Laboratory), Nadia Messaddeq(Inserm), Patrick Schultz(Centre National de la Recherche Scientifique), Olivier Danos(Regenxbio (United States)), Anne‐Marie Douar(Genethon (France)), Françoise Fougerousse(Genethon (France)), Marie Montus(Genethon (France)), Danièle Spehner(Inserm), Christopher R. Pierson(Nationwide Children's Hospital), Christine Kretz(Pediatrics and Genetics)
Cited by 127
Related Papers
Cryo-electron microscopy of vitrified specimens
|Quarterly Reviews of Biophysics|1988|2.4k
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|961
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917